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A 12-year-old Hispanic girl presented with fatigue, lightheadedness, and intermittent headaches. She was depressed and appeared pale to her mother. Her examination was unremarkable except for palpebral conjunctival pallor and was otherwise noncontributory. She had a profound hypoproliferative microcytic anemia with low iron level, low transferrin saturation, and a normal ferritin level. The patient experienced improvement in clinical symptoms following transfusion of packed red blood cells and oral iron therapy. At follow-up 2 months later, she presented with similar symptoms and persistent microcytic anemia with low iron levels. Her ferritin level was increased along with markedly elevated C-reactive protein and erythrocyte sedimentation rate. An oral iron challenge demonstrated lack of absorption, and hepcidin level was also significantly elevated. Thorough gastrointestinal and rheumatologic evaluations were performed to search for a source of inflammation. Key components of the patient’s social history supplemented by serology, radiographic, and pathologic findings ultimately cinched an unexpected diagnosis.

This is the case of a previously healthy 15-month-old girl who initially presented to her primary pediatrician with a 2-week history of intermittent periorbital edema. The edema had improved by the time of the visit, and a urine specimen was unable to be obtained in the clinic. A routine fingerstick demonstrated anemia to 8.8 mg/dL, so the patient was started on ferrous sulfate. She then returned to the emergency department 1 month later with severe periorbital edema and pallor but no other significant symptoms. On physical examination, she was tachycardic with striking periorbital edema and an otherwise normal physical examination. She was noted to have a severe microcytic anemia (hemoglobin of 3.9 mg/dL and mean corpuscular volume of 53.1 fL) and hypoalbuminemia (albumin of 1.9 g/dL and total protein of 3.3 g/dL). The remainder of her electrolytes and liver function test results were within normal limits. A urinalysis was sent, which was negative for protein. Our panel of experts reviews her case to determine a unifying diagnosis for both her severe anemia and her hypoalbuminemia.

A previously healthy 16-year-old adolescent boy presented with pallor, blurry vision, fatigue, and dyspnea on exertion. Physical examination demonstrated hypertension and bilateral optic nerve swelling. Laboratory testing revealed pancytopenia. Pediatric hematology, ophthalmology and neurology were consulted and a life-threatening diagnosis was made.

A 19-month-old girl with a history of asthma and atopic dermatitis presented to her pediatrician because of parental concerns of pallor and fatigue. On dietary history, it was discovered that she was a picky eater and consumed 26 oz of homogenous milk daily. Her physical examination was unremarkable aside from pallor, and both her height and weight plotted between the 50th and 75th percentile for age. Therefore, she was investigated for iron deficiency anemia and indeed her blood work was consistent. Despite appropriate iron supplementation and dietary milk restriction, there was no improvement in her hemoglobin or iron studies. Our expert panel examines the case and offers a differential diagnosis for a child presenting with treatment-resistant iron deficiency anemia.

This is the first clinical practice guideline from the American Academy of Pediatrics that specifically applies to patients who have experienced an apparent life-threatening event (ALTE). This clinical practice guideline has 3 objectives. First, it recommends the replacement of the term ALTE with a new term, brief resolved unexplained event (BRUE). Second, it provides an approach to patient evaluation that is based on the risk that the infant will have a repeat event or has a serious underlying disorder. Finally, it provides management recommendations, or key action statements, for lower-risk infants. The term BRUE is defined as an event occurring in an infant younger than 1 year when the observer reports a sudden, brief, and now resolved episode of ≥1 of the following: (1) cyanosis or pallor; (2) absent, decreased, or irregular breathing; (3) marked change in tone (hyper- or hypotonia); and (4) altered level of responsiveness. A BRUE is diagnosed only when there is no explanation for a qualifying event after conducting an appropriate history and physical examination. By using this definition and framework, infants younger than 1 year who present with a BRUE are categorized either as (1) a lower-risk patient on the basis of history and physical examination for whom evidence-based recommendations for evaluation and management are offered or (2) a higher-risk patient whose history and physical examination suggest the need for further investigation and treatment but for whom recommendations are not offered. This clinical practice guideline is intended to foster a patient- and family-centered approach to care, reduce unnecessary and costly medical interventions, improve patient outcomes, support implementation, and provide direction for future research. Each key action statement indicates a level of evidence, the benefit-harm relationship, and the strength of recommendation.

Iron deficiency is a common cause of anemia (IDA) in infancy and can be associated with neurocognitive impairments. Iron-refractory IDA (IRIDA) has recently been described as an inherited cause of IDA due to loss-of-function mutations in the TMPRSS6 gene. IRIDA is characterized by a lack of response to iron replacement. Here we report a new case of IRIDA with its biological parameters and its functional consequences, including neuropsychological impact. The latter was evaluated by the Wechsler Preschool and Primary Scale of Intelligence–Fourth Edition and subtests. We report a 5-year-old French Canadian boy who was incidentally diagnosed with a severe microcytic anemia at 2 years of age (hemoglobin 52 g/L, mean corpuscular volume 50 fL). Except mild pallor, he was asymptomatic of his anemia. Although he had a slight response to intravenous iron therapy, his hemoglobin remained A and maternally inherited c.1807G>C mutations were eventually identified. The patient had normal development and growth. Neuropsychological evaluation revealed excellent performance, with high Wechsler Preschool and Primary Scale of Intelligence–Fourth Edition scores (ie, 82nd percentile for both global intelligence and general ability index). In conclusion, TMPRSS6 c.1807G>C in conjunction with c.1324G>A results in IRIDA. In contrast to the usual form of IDA, IRIDA may not be associated with neuropsychological deficits.

Collagenous gastritis (CG) is an extremely rare condition characterized by subepithelial deposition of collagen in the stomach. Presentation includes severe iron deficiency anemia and variable gastrointestinal symptoms. Often presenting in adolescence; the cause, treatment and outcomes are not clearly defined. We describe the case of a 15-year-old previously well boy presenting with symptomatic anemia. Symptoms began with exertional palpitations, shortness of breath, headaches and pallor over a four month period. Review of systems was negative for viral illnesses, petechiae, bleeding, hematochezia, melena, gastrointestinal complaints, hematuria, and hemoptysis. He took no medications and consumed sufficient dietary iron. Family history indicated no autoimmune, hemolytic, collagen vascular or bleeding disorders. Vital signs were …

Objective. The goal was to examine the demographic characteristics, causative foods, clinical features, treatments, and outcomes for children presenting with acute food protein-induced enterocolitis syndrome. Methods. This was a retrospective study of children with food protein-induced enterocolitis syndrome who presented to the Children's Hospital at Westmead (Sydney, Australia) over 16 years. Results. Thirty-five children experienced 66 episodes of food protein-induced enterocolitis syndrome. The mean age at initial presentation was 5.5 months. Children frequently experienced multiple episodes before a correct diagnosis was made. Twenty-nine children reacted to 1 food, and 6 reacted to 2 foods. Causative foods for the 35 children were rice (n = 14), soy (n = 12), cow's milk (n = 7), vegetables and fruits (n = 3), meats (n = 2), oats (n = 2), and fish (n = 1). In the 66 episodes, vomiting was the most common clinical feature (100%), followed by lethargy (85%), pallor (67%), and diarrhea (24%). A temperature of 500 × 109 cells per L was recorded for 63% of episodes with blood count results. Only 2 of the 19 children who presented to an emergency department with their initial reactions were discharged with correct diagnoses. Additional investigations of food protein-induced enterocolitis syndrome episodes presenting to the hospital were common, with 34% of patients undergoing abdominal imaging, 28% undergoing a septic evaluation, and 22% having a surgical consultation. Prognosis was good, with high rates of resolution for the 2 most common food triggers (ie, rice and soy) by 3 years of age. Conclusions. Misdiagnosis and delays in diagnosis for children with food protein-induced enterocolitis syndrome were common, leading many children to undergo unnecessary, often painful investigations. Decreased body temperature and thrombocytosis emerge as additional features of the syndrome.

BACKGROUND AND OBJECTIVES: Blood culture is the gold standard to diagnose bloodstream infection but is usually time-consuming. Prediction models aim to facilitate early preliminary diagnosis and treatment. We systematically reviewed prediction models for health care–associated bloodstream infection (HABSI) in neonates, identified superior models, and pooled clinical predictors. Data sources: LibHub, PubMed, and Web of Science. METHODS: The studies included designed prediction models for laboratory-confirmed HABSI or sepsis. The target population was a consecutive series of neonates with suspicion of sepsis hospitalized for ≥48 hours. Clinical predictors had to be recorded at time of or before culturing. Methodologic quality of the studies was assessed. Data extracted included population characteristics, total suspected and laboratory-confirmed episodes and definition, clinical parameter definitions and odds ratios, and diagnostic accuracy parameters. RESULTS: The systematic search revealed 9 articles with 12 prediction models representing 1295 suspected and 434 laboratory-confirmed sepsis episodes. Models exhibit moderate-good methodologic quality, large pretest probability range, and insufficient diagnostic accuracy. Random effects meta-analysis showed that lethargy, pallor/mottling, total parenteral nutrition, lipid infusion, and postnatal corticosteroids were predictive for HABSI. Post hoc analysis with low-gestational-age neonates demonstrated that apnea/bradycardia, lethargy, pallor/mottling, and poor peripheral perfusion were predictive for HABSI. Limitations include clinical and statistical heterogeneity. CONCLUSIONS: Prediction models should be considered as guidance rather than an absolute indicator because they all have limited diagnostic accuracy. Lethargy and pallor and/or mottling for all neonates as well as apnea and/or bradycardia and poor peripheral perfusion for very low birth weight neonates are the most powerful clinical signs. However, the clinical context of the neonate should always be considered.

Sympathetic paragangliomas are rare catecholamine-secreting tumors of extra-adrenal origin, and their diagnosis in children is even more infrequent. They usually manifest as hypertension, palpitations, headache, sweating, and pallor. Malignant paragangliomas are identified by the presence of metastasis. Hemorrhagic stroke in the pediatric population is a life-threatening condition with several etiologies. We report here the case of a 12-year-old boy with malignant sympathetic paraganglioma presenting with hemorrhagic stroke. Severe hypertension was found and the patient evolved into a coma. Brain computed tomography scan showed right thalamus hemorrhage with intraventricular extension. After clinical improvement, further investigation revealed elevated catecholamine and metanephrine levels, and 2 abdominal tumors were identified by computed tomography. Resection of both lesions was performed, and histologic findings were consistent with paraganglioma. Multiple metastatic involvement of bones and soft tissues appeared several years later. Genetic testing identified a mutation in succinate dehydrogenase subunit B gene, with paternal transmission. 131I-metaiodobenzylguanidine therapy was performed 3 times with no tumoral response. Our patient is alive, with adequate quality of life, 25 years after initial diagnosis. To our knowledge, this is the first pediatric case of paraganglioma presenting with hemorrhagic stroke. Intracerebral hemorrhage was probably caused by severe hypertension due to paraganglioma. Therefore, we expand the recognized clinical spectrum of the disease. Physicians evaluating children with hemorrhagic stroke, particularly if hypertension is a main symptom, should consider the possibility of catecholamine-secreting tumors. Metastatic disease is associated with succinate dehydrogenase subunit B mutations and, although some patients have poor prognosis, progression can be indolent.

Severe pallid breath-holding spells (BHSs) are based on parasympathetic hyperactivity, leading to cardiac asystole, pallor, brain ischemia, loss of consciousness, and reflex anoxic seizures. In recent years, an increasing number of patients with severe pallid BHSs have been successfully treated with pacemaker implantation. We present the case of a 13-month-old girl suffering from repeated severe pallid BHSs, causing asystole, loss of consciousness, and generalized anoxic seizures. She underwent treatment with oral glycopyrrolate, an anticholinergic drug, and an oral retard preparation of theophylline. The aim of the treatment was to decrease cardiac inhibition with glycopyrrolate and to bring about a positive chronotropic effect with theophylline. In our case, the combined therapy was effective in suppressing syncope and reflex anoxic seizures associated with BHSs This avoided the need for ventricular pacemaker implantation.

A prospective examination was made of the temporal course of parental observations in response to a monitor alarm of apnea (apnea setting of 20 seconds) or bradycardia (bradycardia setting of 80 beats per minute). Data were obtained from 155 subsequent sudden infant death syndrome siblings followed up at home, during the first 20 weeks of life, on an apnea/bradycardia monitor with an attached event recorder. In addition, parental reports were compared to an objective recording of the pattern of cardiorespiratory activity surrounding each monitor alarm. Only those parental observations were considered which reported the infant to be asleep with no apparent equipment malfunction following an apnea alarm (with or without pallor, cyanosis, or the provision of external stimulation) or a low heart rate alarm associated with pallor, cyanosis, or stimulation. Observations were analyzed within each of five age periods (

Ordinarily, severe disease due to acquired cytomegalovirus (CMV) infection does not occur in immunocompetent children. We describe a previously healthy boy who acquired primary CMV infection at approximately 2 years of age and experienced a 2-year-long debilitating multisystem illness from which he ultimately recovered. Clinical features of this illness included fatigue, poor weight gain, pallor, unexplained fever, musculoskeletal complaints, drenching night sweats, lymphadenopathy, and massive hepatosplenomegaly. Laboratory abnormalities included elevated erythrocyte sedimentation rate, lymphocytosis, and elevated immune complex levels. Cellular immune function was impaired during the illness but was demonstrably normal during convalescence, and there was no other evidence for a known immunodeficiency state. Immunoblot analysis showed enhanced antibody response to a 66-kd infected cell protein after symptomatic recovery. Despite consistently normal indices of hepatic function, liver enlargement persisted after other symptoms had resolved. Liver biopsy demonstrated a mononuclear cell portal tract infiltrate with fibrosis, but CMV could not be demonstrated directly in this tissue. Primary CMV infection has not been reported previously to cause the persistent symptoms seen in this child.

Hemangiomas are the most common benign tumors of infancy, occurring in 8% to 12% of full-term white infants and up to 22% of preterm neonates weighing less than 1000 g. Hemangiomas are rarely present at birth, but so-called precursor lesions may be evident. These include pale macule(s), which may be mistaken as an achromic nevus or nevus anemicus; erythematous papule(s), a blue patch resembling a bruise; or an erythematous or telangiectatic patch resembling a port-wine stain.1-3 Occasionally, fully formed tumors, often with overlying telangiectasias and peripheral pallor, are present at birth.3 We report four cases of infants in whom the initial presentation was a skin ulceration of either the perineum or lip, with the diagnosis of hemangioma becoming evident days to weeks later. ### Case 1 A 2-week-old white female presented with two punched-out ulcers on an erythematous base in the left gluteal region (Fig1). The mother's history was significant for two episodes of genital herpes. During labor, genital lesions suspicious for herpes prompted a cesarean section 5 hours after spontaneous rupture of membranes. Maternal herpes culture was ultimately negative. On day five a cold sore on the mother's lower lip grew an untypable herpes simplex virus, but rectal and nasopharyngeal cultures of the infant were negative for herpes. Fig. 1. Case 1. Punched out ulcerations at the base of the sacrum. Seven days later, ulcers (without previous vesiculation) were noticed in the sacral area (Fig 1), and the patient was hospitalized for possible neonatal herpes simplex. Her physical examination was otherwise unremarkable. She was treated with intravenous acyclovir, tobramycin …

Pernio, or chilblains, is a localized inflam- matory lesion of the skin resulting from an abnormal response to cold. Five cases were seen among adolescent female patients who presented to our rheumatology ser- vice in a pediatric tertiary care center in the winter of 2003 to 2004. All 5 patients were thin (BMI of

EMLA (eutectic mixture of local anesthetics) is a eutectic mixture of lidocaine and prilocaine used to provide topical anesthesia for various procedures. When used properly, EMLA can provide anesthesia to a depth of 5 mm in intact skin, allowing for better pain control during superficial procedures (eg, venipuncture and lumbar puncture).1 Its use has grown widely over the past few years. The adverse effects most commonly related to the use of EMLA are mild local reactions such as edema, erythema, and transient pallor. More-severe reactions, however, have been reported, including methemoglobinemia and seizures.1–6 Only 2 prior reports have described the association between the use of EMLA and the development of seizures.2 This case stands out from prior reports in that a proper amount of EMLA was used but applied to a large area of diseased skin. A healthy 3-year-old white female with a history of eczema was referred to an allergist because of seasonal and environmental allergy symptoms. She was scheduled for allergy skin testing. Her parents were given a prescription for a 5-g tube of EMLA to be applied to the patient’s back, which then was to be covered with plastic wrap, before arriving at the allergist’s office on the day of skin testing. On the morning of the scheduled visit, the parents … Address correspondence to James F. Parker, MD, Children’s Healthcare of Atlanta, 1645 Tullie Cir, Atlanta, GA 30329. E-mail: jparke4{at}emory.edu

Objectives. To examine the relationship between usual infant sleeping position and the parental report of infant cyanosis, pallor, breath-holding, and breathing difficulties; and to document hospital admission rates for apnea/cyanosis over time and to describe how admission rates vary by usual sleeping position. Methods. A prospective cohort study was conducted. It involved the one fifth of Tasmanian live births that were assessed, using a perinatal score, as being at higher risk for sudden infant death syndrome (SIDS). From May 1, 1988 to April 30, 1993, 6213 infants participated in the hospital (4 days postnatal age) and home interview (5 weeks postnatal age) (89% of eligible infants). Data on usual sleep position and infant history of cyanosis were collected at home interview. Hospital admission records for apnea/cyanosis in the first year of life were linked to data on cohort infants in southern Tasmania. Results. Infants who slept supine were not more likely to have been reported to experience cyanosis, pallor, or breathing problems at 1 month of age, when compared with infants sleeping in other positions. In fact, the risk of cyanosis was higher in the prone, face-down sleeping position than in the supine sleeping position (adjusted odds ratio = 4.21, 95% confidence interval [1.33, 13.28]). Among cohort infants in southern Tasmania, hospital admission rates for apnea/cyanosis did not differ by usual sleeping position or year of birth. Conclusions. Infants usually sleeping supine do not have increased rates of morbidity in relation to parental reports or hospital admissions for apnea/cyanosis. In a location where SIDS and total postneonatal mortality has fallen after intervention to reduce the prevalence of the prone position, rates of hospital admission for apnea/cyanosis have not changed. infant sleeping position, sudden infant death syndrome, infant cyanosis, infant apnea.

Background. A hypotonic–hyporesponsive episode (HHE) is the sudden onset of hypotonia, hyporesponsiveness, and pallor or cyanosis that occurs within 48 hours after childhood immunizations. This syndrome has been primarily associated with pertussis-containing vaccines administered to children Objectives. To characterize a large number of HHE cases reported to the Vaccine Adverse Event Reporting System (VAERS), to assist clinicians in identifying HHE, and to assist researchers in investigating the risk factors, cause, and pathogenesis of this syndrome. Methods. More than 40 000 VAERS reports received between 1996 and 1998 were screened for HHE by a computer algorithm and reviewed, and a telephone follow-up questionnaire was administered to the witness of HHE. Results. There were 215 HHE cases, all nonfatal. The median age of onset of HHE was 4.0 months (range: 1.1–107 months). Over half of the reports (53%) concerned females. The median birth weight was 3.36 kg (range: 1.27–4.96 kg); 4.7% had a birth weight 24 months of age. There were no relevant findings regarding family medical history or the mothers' gestational history. Nearly all of the children (98.6%) returned to their prevaccination state according to the telephone questionnaire; median time to return was 6 hours (range: 1 minute– 4 months). The 3 children reported as not returning to their prevaccination state all had VAERS reports submitted after they developed conditions (autism, complex partial epilepsy, and developmental delays with infantile spasms) that are not known to be causally associated with immunization. The vast majority of children (93%) with HHE received a pertussis-containing vaccine, either diphtheria-tetanus-acellular pertussis (DTaP, 28%), DTwP (11%), or diphtheria-tetanus-pertussis-Haemophilus influenzae type b (DTwP-HIB, 61%). During the HHE episode, 90.1% of the children had pallor and 49% had cyanosis. Because of the HHE event, 6.8% of children had had all vaccines withheld as of the date of the interview. Of the remainder, 66.5% of children have had 1 or more subsequent vaccinations or vaccine components withheld, and 26.7% have not had any subsequent vaccinations withheld. Only 1 child was reported to have had a repeat episode of HHE, occurring after hepatitis B vaccination. From 1996 to 1998, the number of HHE reports decreased from 99 to 38, when the predominant pertussis vaccine administered to infants changed from whole-cell to acellular. Conclusion. This study represents the largest published case series of children with HHE and supports the generally benign, self-limited, nonrecurrent nature of this syndrome. Although HHE has been less frequently reported to VAERS after increased use of DTaP, HHE does occur after the administration of DTaP and other nonpertussis-containing vaccines. Although most parents and pediatricians withheld the pertussis component of subsequent vaccinations, many did not, with no reported adverse events occurring in the children after the subsequent immunizations. Restricting the definition of HHE to a more narrow age range (eg

Acrodermatitis enteropathica, a heritable disease of zinc deficiency, was formerly amenable to treatment only with dihaloquinolinol drugs. A few cases of optic atrophy were reported in surviving patients and were proposed as examples of ocular drug toxicity, principally because of the association between iodochlorhy-droxyquin and subacute myelo-optic neuropathy (SMON) in Japan. An alternate hypothesis is now offered: that the optic atrophy was secondary to the zinc deficiency, which is consistent with diverse evidence cited from the literature. Therefore, it would seem worthwhile to investigate zinc in cases of disk pallor described as idiopathic or drug associated, and to investigate visual function in cases of severe malnourishment.

A multiparous woman (VDRL-negative, Rh-positive) was admitted in labor to an Air Force hospital at an estimated 38 weeks of pregnancy. A 1,928-gm, male infant was delivered precipitously. Immediately after expulsion, the infant was noted to be extremely pale and weak, although it breathed and cried promptly. A second male infant, of similar weight, was then delivered spontaneously and appeared normal. The contrast in appearance between the two infants was striking. The first infant, receiving oxygen by mask, had obvious pallor without cyanosis or respiratory retractions. The respirations were irregular and gasping, the cry feeble. Neither peripheral nor precordial pulses of the first baby were palpable, but a faint, rapid heart beat was heard on auscultation. The second infant was pink, active, and crying vigorously, even without the administration of oxygen. Neither baby had edema, a palpable spleen or liver. A diagnosis of posthemorrhagic shock in the first infant was made. Soon thereafter, a single placenta with velamentous insertions of the cords (Fig. 1) at each side was delivered. The umbilical vessels of one cord were totally avulsed at the velamentous insertion, except for a thread-like strand which later separated in handling. Thirty milliliters of dextran were injected immediately into a cutaneous vein of the first infant, approximately 15 minutes after delivery. The baby immediately became much more vigorous and developed a discernible pulse. Further improvement occurred when 30 ml of Group-O, Rh-negative blood was injected, approximately 30 minutes later. The first hemoglobin determination, deferred until 20 hours of age to avoid unnecessary handling was 10.6 gm/100 ml in the first infant, as compared to 16 gm/100 ml in the second. Further replacement and comparative studies are shown in Figure 2. Neither infant developed icterus during the stay in the nursery. Both infants received a transfusion toward the end of the hospitalization. Blood studies and development of both infants were normal at 2 and 5 months, respectively.

One hundred and two children with recurrent abdominal pain were studied and followed through hospitalization. The pain in this group was variable, with no consistent pattern in time, duration, and intensity. It was located in the periumbilical region in 50 of the patients. Associated symptoms frequently included headache, pallor, nausea, vomiting, constipation, dizziness, and poor appetite. The principal physical finding was tenderness on deep palpation over various sections of the abdomen. Proctoscopic findings in 88 of 90 patients examined were rectal dilatation, hyperemic areas, pallor, lymphoid hyperplasia, pellet stools, edema, and friability. There were no other abnormal laboratory or x-ray findings. Various behavioral manifestations were observed in this group of children. Some of the children were able to delineate points of stress as precipitants of episodes of pain. During hospitalization there was total abatement of intestinal symptoms in 53% of the children and there was a decline in symptomatology in another 38%. It is proposed that the abdominal manifestations of this group of patients can be described as the irritable bowel syndrome in childhood.

Acute fetal blood-loss usually occurs during labor and delivery. This condition may be the second commonest cause for anemia in infants at birth. Although the causes for fetal hemorrhage are diverse, they result in a single entity, posthemorrhagic anemia or shock immediately after birth. The signs and management are essentially the same regardless of cause. It is suggested that "posthemorrhagic anemia and shock in the newborn" be an accepted and standard pediatric diagnosis. The infants are pale but have no hepato-splenomegaly or edema. If the condition is severe the infants have weakness, tachycardia and distress out of proportion to any degree of cyanosis. Pallor persists in spite of administration of oxygen. Under such conditions immediate re-expansion of blood volume is imperative and lifesaving.

GALACTOSEMIA is an uncommon disorder of carbohydrate metabolism characterized by the inability of the body to utilize ingested galactose. The symptoms and signs of this disease in infancy are: failure to gain weight, retardation of development, enlargement of the liver and spleen, melituria, excretion of albumin in the urine, often osteoporosis and cataract formation. Recognized instances of galactosemia are uncommon; only nine substantiated cases have been reported in medical literature. A review of these cases emphasizes the importance of accurate diagnosis, since proper treatment, that is, elimination of galactose from the diet, results in clinical improvement, gain of weight, decrease in the size of the liver and spleen, and elimination of albumin and reducing substance from the urine. Evidence indicates that this clinical improvement is not associated with any alteration in the intolerance to ingested galactose, although follow-up studies over a long period have not been reported. An infant with galactose intolerance has recently been observed for 24 months after the diagnosis was established. Report of Case A white male infant aged 4½ mo. was admitted to the hospital with the complaints of poor gain of weight, retarded development, pallor, vomiting and diarrhea since birth. He was the fifth child of apparently healthy parents. The oldest sibling was 9½ yr. old and in good health; the second child had died at the age of 2½ mo. with symptoms of diarrhea and a diagnosis of cystic fibrosis of the pancreas; the third child had died at the age of 3 wk. of unknown causes; the fourth child was 2½ yr. of age and had nephrosis.

Transient erythroblastopenia of childhood (TEC) is a benign condition, occasionally preceded by an upper respiratory tract infection, affecting infants and children between 1 month and 6 years of age. At presentation, it is characterized by anemia, which may be quite severe, reticulocytopenia, and absent or markedly decreased erythroid precursors in the bone marrow. Spontaneous resolution occurs in two to eight weeks without therapy. With the exception of pallor, there are no abnormal physical findings.1-3 It has recently been demonstrated that serum and IgG specimens obtained at the time of diagnosis in four patients with TEC uniformly suppressed erythroid colony development from CFU-E whereas one patient had a serum inhibitor of erythropoiesis; thus, a transient immune suppression phenomenon is implicated as a possible factor in the development of anemia.4

Knowledge regarding the etiology and optimal management of prolonged infantile apnea and its relationship to sudden infant death syndrome (SIDS) is tentative. Consequently, infantile apnea is a controversial subject; professional discussion and media attention are often emotional and even erroneous. Prolonged apnea is defined as cessation of breathing for at least 20 seconds or as a briefer episode of apnea associated with bradycardia, cyanosis, or pallor. Brief episodes of apnea are a normal occurrence in infants, but prolonged apneic episodes may lead to morbidity and rarely mortality. The vast majority of infants with prolonged apnea are not victims of SIDS; most SIDS victims were never observed to have had prolonged apnea prior to the terminal event. The risk of death from SIDS is somewhat greater in the group of infants with prolonged apnea than in the general population. Infants with sleep apnea who have required active intervention, such as positive pressure "resuscitation," may be at significant risk. Apnea of undetermined etiology that occurs in the premature infant between the actual date of birth and the original due date is apparently not predictive of SIDS. There is, however, indication that preterm infants as a group and perhaps siblings of infants who were victims of SIDS are at somewhat increased risk. Infants who have had an episode of prolonged apnea are perceived by parents and physicians as having experienced a life-threatening event and being at risk for another. Prolonged apnea can be a symptom of many disorders including infection, seizures, airway abnormalities, hypoglycemia or other metabolic problems, anemia (in preterm infants), gastroesophageal reflux, impaired regulation of breathing during sleeping and feeding, and abuse.

Scanlon and Walkley1 have clearly identified another cause of the iatrogenic neonatal anemia. It is difficult, however, to understand why this infant with symptomatic anemia (i.e., pallor, heart murmur, and cardiomegaly) was not transfused. Duc2 has described four types of hypoxia: type A, hypoxia with hypoxemia due to a decrease in Pao2; type B, hypoxia with hypoxemia due to a decrease in blood oxygen content without a decrease in Pao2; type C, hypoxia with normoxemia due to a decrease in peripheral blood flow; type D, hypoxia with normoxemia due to an increase in the hemoglobin oxygen affinity.