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A rare syndrome that can be diagnosed radiographically has been reviewed. A characteristic physiognomy, variable ophthalmologic anomalies and relatively specific dental and digital defects provide the diagnostic features. No hereditary component was identified and the chromosomal pattern was normal. The history, appearance and characteristic radiographic changes may, as in this case, allow the radiologist to provide a diagnosis not previously appreciated.

A case of Bourneville-Pringle syndrome with oral manifestations in a 40-year-old woman is described. The oral manifestations of this rare syndrome consist of multiple tumorlike papillomas which are located mainly on the anterior gingivae of the upper jaw. The histologic examination revealed small papillomas.

The disorder of metabolism, variously called bronze diabetes, diabete bronze, hemochromatosis and hemosiderosis, is so infrequently encountered as to be of unusual interest. Howard (1) found only 75 cases in the literature through the year 1918, and since then very few have been added. The case which it is the object of this communication to describe is worthy of note because it presents not only the usual feature of this relatively rare syndrome, but also shows, in sexual regression, evidence of a profound endocrine disturbance.A. Laf, a vagrant laborer 28 years of age, was admitted to the University Hospital August 16, 1922, complaining of excessive thirst and urination, and of weakness. He was born of French parents in the United States. His history was of no medical interest up to the age of 17. Until that time his development was, in his estimation, entirely normal. He believed that there was nothing unusual in his sexual capacity and he stated that he had frequently indulged in coitus. During this y...

O autor descreve longamente uma observação dêste raro síndromo de lesão dos troncos nervosos periféricos dos nervos craneanos. No histórico do paciente, apurou a Micose pulmonar, pelo Neogeotrichum pulmoneum e úlcera estomacal, havendo-se curado de ambas. O síndromo nervoso atual foi de origem traumática, por arma de fogo, penetrando a bala no espaço retro-parotidiano e lesando, com maior ou menor intensidade, os nervos glossofaringeu, pneumogástrico, espinhal, hipoglosso e o simpatico cervical esquerdos. Além do síndromo nervoso, teve o paciente um aneurisma da artéria carótida primitiva, que foi ligado.The author describes at length a clinical observation of this rare syndrome of the lesions of the peripheric nervous trunks of the cranial nerves. In the clinical history of the patient, the author verified a pulmonary mycosis by Neogeotrichum pulmoneum and stomack ulcer, both having been cured. The present nervous syndrome was of traumatic origin, by a fire-arm, the bullet having penetrated the retro-parotidian space, wounding with more or less intensity the glossopharyngeal, vagus, spinal, hypoglossal and the cervical sympathetic nerves, all of the left. Besides the nervous syndrome, the patient suffered an aneurism of the primitive carotid artery which was tied.

This article represents a critical attempt to survey the cumulative information of the rare syndrome ordinarily called Di Guglielmo’s disease. The historical background lies predominately in Europe, more particularly in Italy, where the recording of cases has been fairly extensive and where interpretation has been pioneered. The present study does not presume to be definitive. It attempts to trace the thinking that has gone before, and to define the terms of reference so as not to compound nosologic confusion. It presents examples of cases in the literature acceptable diagnostically by definition. Criteria for the differential diagnosis of acute and chronic erythremic myelosis and erythroleukemia are offered. These three conditions are regarded as variants of reticulo-endotheliosis. This conclusion is based on what is known of the pathogenesis, and on what has been observed clinically and hematologically. All evaluation is necessarily offered with the reservations that must be held regarding a rare disease of unknown etiology.

We have presented a case report which, although lacking operative and pathologic confirmation, appears to fit clearly the rare syndrome, primary puerperal cerebral venous thrombosis. A review of reported cases is analyzed and the symptom complex and clinical findings are discussed in light of presently known pathophysiology. The etiology is presently unknown but possible causes are noted. The differential diagnosis is discussed and the frequent misdiagnosis of puerperal eclampsia is noted. The treatment is as yet not fully agreed upon but the important therapeutic distinction between this syndrome and eclampsia is noted regarding antihypertensive therapy. The use of anticoagulants is indicated in highly selected cases. The prognosis is probably better than the reported cases heretofore indicate. The mortality is 23 per cent in the reviewed cases and 61.6 per cent survive with no residual defect. Symptomatic and supportive care without overtreatment appears to be the wisest course in these patients.

In 1931 Marinesco et al1reported a family in which five siblings, four boys and a girl, had cerebellar ataxia and oligophrenia with congenital cataracts. In 1947 Sjogren2reported two patients in two different families, both with consanguineous parents, who had cerebellar ataxia, oligophrenia, and congenital cataracts. Since that time the syndrome of cerebellar ataxia, oligophrenia, and congenital cataracts has become known as the Marinesco-Sjogren syndrome. It is a very rare syndrome apparently inherited as an autosomal recessive trait. Other authors who have written papers on this syndrome are Richards,3Garland and Moorhouse,4Decock and Macken,5Durusken,6MacGillivray,7Dogulu and Mutler,8Dureaux, Cordier, Ziza and Tridon,9Amyot,10Franceschetti, Marty, and Klein,11Muller,12Alter, Talbert, and Croffead,13,14and Prot.15Francois16states that aniridia with oligophrenia has been reported several times. It is the purpose of this

Tem como objetivo principal entender como sujeitos que apresentam uma síndrome rara são vistos-existenciados pelos outros seres que os rodeiam. Para tanto, caracterizamos algumas síndromes raras que se fazem presentes nas escolas de ensino comum; uma breve discussão acerca da inclusão, escolarização e práticas pedagógicas desenvolvidas com sujeitos com deficiência e transtornos globais do desenvolvimento no contexto da escola comum. Por fim são apresentadas algumas discussões acerca da fenomenologiaexistencial, que conduziu o estudo, bem como a discussão dos dados coletados numa pesquisa de campo com foco numa criança com uma síndrome rara em processo de inclusão escolar.

Neonatal chylous ascites is a rare syndrome. No single etiology dominates in its genesis. However, the presence of a chyloperitoneal effusion usually implies an obstructive process or defect in the lymphatics, centrally or peripherally. The case reported was produced by congenital venous remnants obstructing the mesentery. Detailed findings, including necropsy examination are presented.

The first of several conditions to be given the name of myokymia was the rare syndrome described by Schultze (1895) in which continuous, slow, undulating, muscular contractions are associated with a type of muscular spasm superficially resembling myotonia. A further case of this type is described. The clinical and electromyographic features are characteristic and the symptoms can be controlled by treatment with hydantoin derivatives.

1. A case of congenital analgia showing the usual features of biting lips, tongue and repeated traumata, is presented. 2. Notable features are the young age of the patient when analgia was detected, and association of a congenital heart lesion. 3. To our knowledge this is first case report from the Indian subcontinent. 4. The available literature on this rare syndrome is reviewed.

1. The clinical and pathological features are given of an example of the rare syndrome of progressive and massive osteolysis associated with haemangiomatous changes in the bones affected. 2. Twenty-six cases have been previously reported, but this is only the second from Britain. Only one other patient is considered to have died as a direct result of the disease.

This is a report of a rare syndrome in a 7-year-old boy who had atresia of the pars membranacea and bulbosa urethrae combined with spina bifida. and other malformations in the anal-urogenital area. Et

Vitamin D-dependent rickets Type II is a rare autosomal recessive disorder. Alopecia of the scalp or the body is seen in some families with Vitamin D-dependent rickets Type II. We report a child with this disease, and review the salient features of this disease with emphasis on the associated alopecia. Due to lack of facilities for estimation of 1, 25(OH)2 D and parathyroid hormone, alopecia remains the only clue to the diagnosis of this rare syndrome in association with resistant rickets. Key words: Rickets, Vitamin D metabolism DOI: 10.3126/jnps.v30i1.2460 Journal of Nepal Paediatric Society Vol.30(1) 2010 46-49

A rare syndrome composed of blepharochalasis, double lip, and nontoxic goiter was first described by Ascher in 1920. Many of the cases reported since that time are not representative of the complete form of the syndrome. A case of the complete syndrome in a 17-year-old girl is reported.

The authors present a case of multiple sebaceous tumours and kerato acanthomata of the skin in a man who in a period of 21 years was also treated twice for a carcinoma of the colon and once for a carcinoma of the stomach. In the literature only two comparable cases have been found. It is suggested that these three cases represent examples of a rare syndrome.

This paper is presented to acquaint the otolaryngologist with a relatively rare syndrome consisting of congenital familial kidney disease and nerve hearing loss and to report a case that was seen in the Winthrop Foundation of the Massachusetts Eye and Ear Infirmary. In reviewing the literature it is possible to find a relatively abundant amount of material pertaining to hereditary kidney disease, but very little reporting an associated deafness. Hereditary kidney disease in any form is very unusual. 1 Guthrie 2 in 1902 described a family in which 12 members had hematuria, either gross or microscopic. These members were reevaluated by Kendall and Hertz, Hurst, and Alport, 3 who observed that the hematuria was often intermittent. They also added some more members, seven males and eight females. An associated nerve deafness was usually found in the males, and they died of chronic renal disease before the age of 20. Only

Summary The rare syndrome of hereditary onycho-osteodysplasia is described and illustrated in three generations of a Liverpool family, with emphasis placed on the radiological features of the syndrome. The literature is briefly reviewed in reference to the various manifestations and mode of inheritance.

Summary A giant h˦mangioma associated with a thrombocytopenia is a rare syndrome (eleven previously reported cases). This case was treated successfully by radical removal of the h˦mangioma. Removal of the h˦mangioma seemed to cure the thrombocytopenia.

SUMMARY Radiographic changes in four cases of Larsen's syndrome have been described. This is a rare syndrome characterised by multiple bilateral joint dislocations, positional deformities of the feet and hands, finger abnormalities, scoliosis and peculiar facies. The disease should be recognised on the basis of clinical findings. The radiographic examination is highly diagnostic.

A previous publication1dealt with two Jewish-American brothers, aged 25 and 21, Cases 1 and 2, who had in common the main features of the very rare syndrome dyskeratosis congenita with pigmentation, dystrophia unguium, and leukoplakia oris. This paper completes their interesting and tragic life histories. Review of Case 1 When the patient was 5 years of age, blisters appeared at the sides of the tongue. These healed after medication but recurred yearly. Sores later developed on the inside of the mouth and gums. Attacks of dysphagia occurred when the patient was 8 years old, due to narrowing of the esophageal orifice. At the age of 11 the teeth began to soften, to crumble, and gradually to decay. The trunk and extremities revealed pigmentary changes. At the age of 12 the nails of the hands became dystrophic, shriveled, and shrunken. The skin was dry except for the palms

PEUTZ,1in 1921, reported the association of skin pigmentation and small bowel polyps in several members of a family. Jeghers2added two such patients to the literature in 1944 and, in 1949 along with McKusick and Katz,3he established the syndrome as an entity which appears to be inherited as a mendelian dominant. Since that time additional cases have brought the reported number to somewhat over 100.4 An additional patient, a 41/2-year-old girl with the rare syndrome of mucocutaneous pigmentation and gastrointestinal polyposis, is presented below because of the associated presence of a granulosatheca cell tumor of the ovary with resultant precocious puberty. The interest aroused by the coincidence of these two rare disorders has been further stimulated by the isolated reports5,6of two other cases of Peutz-Jeghers syndrome associated granulosa cell tumors. Report of a Case A 41/2-year-old girl was admitted for

ALTHOUGH rupture of an abdominal aneurysm into the gastrointestinal tract was described as far back as the middle of the nineteenth century, it was not until 1943, when Rottino1 presented his excellent paper, that its clinical importance was realized. Since then, the role of this rare syndrome in modern medicine has been re-emphasized many times.2 3 4 5 6 7 8 9 Kane et al.,6 in a review of 28,400 consecutive autopsies, found aneurysmal rupture into the gastrointestinal tract responsible for 6.1 per cent of all fatal gastrointestinal hemorrhages. Because the majority of aneurysms in their series were aortic and were thoracic and syphilitic in character, this . . .

A high frequency of chromosomal breakage and rearrangement has been found in cultured blood cells from six of seven individuals with a rare syndrome characterized by congenital telangiectatic erythema and stunted growth. Only 19 instances of this apparently genetically determined disorder are known, and malignant neoplasia has developed in three.

Gilles de la Tourette described in 18851a group of patients suffering from multiple tics and coprolalia. Sometimes, though not always, echolalia and echokinesis were present. A comprehensive clinical study of this rare syndrome was recently published by Eisenberg, Ascher, and Kanner.2Characteristically, symptoms begin in childhood before age 10 with tics involving the upper part of the body. They may begin in the head and spread to involve upper limbs and later the trunk, as well as lower extremities. Eye-blinking, head twisting, grimacing, protrusion of the tongue, grinding of the teeth, repetitive sudden movements of the limbs with jumping, kicking, etc., are among the great variety of tics described. These phenomena are more pronounced in those under emotional stress. Peculiar throat noises usually appear early and are variously described as "inarticulate cries, rasping, barking": and it is these noises as they become articulate as coprolalia—explosive and repetitive

2 cases of deep venous thrombosis of the upper extremity a relatively rare syndrome seen only once or twice for every 100 cases of lower extremity involvement are presented. Both occurred at the U.S. Naval Hospital in Guam. 1 woman had been taking Norinyl for 3 years while the other had taken Ovulen for several years but had discontinued therapy 3 weeks prior to developing symptoms. Each patient recovered through treatment with intravenous heparin warm soaks and elevation. Other studies linking thromboembolism and oral contraceptives provide enough evidence to regard the oral agents in these 2 cases with suspicion. 2 cases of deep venous thrombosis perhaps associated with oral contraceptives have previously been reported in the literature.

The case of a 14-month-old girl with a giant pigmented hairy nevus of the “bathing trunk” type and multiple satellite lesions is presented. We also report on her 2 1/2 year-old brother with a solitary large pigmented hairy nevus on his right wrist. The significance of this type of nevus in relation to neurocutaneous melanosis is stressed, and the possible role of hereditary factors in this rare syndrome is discussed.

Excerpt Idiopathic paroxysmal myoglobinuria is a rare syndrome consisting basically of the spontaneous onset of muscle pain and swelling followed by myoglobinuria and frequently complicated by olig...

The eighteenth patient with lipoatrophic diabetes has been reported. In addition to demonstrating all the criteria of this rare syndrome, he is the first on record who exhibits a broad variety of the complications of chronic diabetes mellitus. The significance of this fact is discussed.

A case is reported illustrating the well-defined but rare syndrome of renovascular neurofibromatosis, with hypertension occurring in early life. The diagnostic importance of aortography is stressed. We are grateful to Dr. D. W. Barritt, United Bristol Hospitals, and Professor W. S. Peart, St. Mary's Hospital, London, W.2, for access to their clinical notes, to Dr. Cardy, Melksham, for post-operative clinical details, and Mr. H. Freundlich, Bristol General Hospital, for help with translation.

Two infant gids with median facial cleft syndrome are described. The patients were the children of the same mother but of different fathers. None of the parents had the same or similar malformations. The occurrence of this rare syndrome in half-sisters is difficult to explain; it poses questions about etiology, usually not considered if malformation syndromes are seen in sisters who are the offspring of the same mother and father, both unaffected.

The rare syndrome of compulsive swearing and tics, named after Georges Gilles de la Tourette, has been recorded previously in the Southern Hemisphere, although these records have been overlooked in many reviews. The case history of a 17-year-old New Zealand boy is reported. In this case, there is a marked family history of schizophrenia. Some of the features of this patient are discussed.

A RECENT review1 has compiled 17 cases of a rare syndrome consisting of pheochromocytonia, medullary carcinoma of the thyroid gland with elevated calcitonin blood levels, multiple mucosal neuromas ...

Two cases of acute muscular syndrome associated with administration of clofibrate are reported. In both patients there was a previous history of muscle pajn during clofibrate therapy, which prompted us to rechallenge with the drug. Serum creatine phosphokinase activity became increased in both subjects, concomitant with muscle pain, but serum glutamic oxalacetic transaminase levels remained normal in one and were only moderately elevated in the other patient. The confirmation of the existence of this rare syndrome (and perhaps the possibility that serum glutamic oxalectic transaminase may be muscular in origin in some patients treated with the drug) suggests the necessity of serial measurements of serum creatine phosphokinase levels during the administration of clofibrate.

Introduction Rumination is a well-established syndrome of self-induced regurgitation with attempts at rechewing and partial reswallowing of the vomitus. Much of the vomitus, however, runs out of the corners of the mouth and the majority of the patients, usually infants, suffer from severe malnutrition, dehydration and life threatening electrolyte imbalance. It is a relatively rare syndrome, but recent reports have emphasized the psychosomatic nature of the illness and indicated specific concurrent disturbances in the mother-infant relationship.5,7,9,15 The mother-infant relationship during the first six months of life is a critically important one. The development of primitive object relations, the ego, and the physiological patterns of adaptation begin during this time and are primarily modeled on the characteristics of the infant's relationship to his mother. Gastrointestinal processes are of paramount importance in this development and the adaptation of the nutritive process to extrauterine life is one of

Recently, we have had occasion to treat a patient with carotid sinus syncope who had been symptomatic and undiagnosed for 4 years. We are presenting this case to alert the physician to this uncommon but not rare syndrome and to illustrate an excellent response to radiation therapy. Report of a Case This 66-year-old white, male, retired police officer, was first seen lying on the floor receiving oxygen at his home on Oct. 30, 1959. Pertinent history revealed that while sitting at the kitchen table he suddenly lost consciousness and fell off the chair to the floor. The first episode of sudden collapse occurred in January, 1955. He was then hospitalized and discharged with a diagnosis of Meniere's disease on the basis of a history of tinnitus in the left ear since 1948. Following this hospitalization the patient noted frequent minor episodes of syncope at almost daily intervals. These disabling attacks

To the Editor:— Among the numerous male patients complaining of various functional nervous disorders, including sexual impotence, Heller and Myers (The Journal, October 21, p. 472) found 23 who had pronounced elevation in gonadotropic hormone excretion, comparable quantitatively to that occurring in castrates. Testicular biopsy done on 8 of these patients revealed reduction in size and in activity of the seminiferous tubules and reduction in size and number of Leydig cells. Three times hyalinization of the seminiferous tubules was found. The age of those patients varied from 25 years to the seventh decade. They made a striking improvement after parenteral administration of testosterone propionate. They are considered to be "true examples of the male climacteric." Heller and Myers emphasize that their findings are by no means a physiologic accompaniment of the aging process in the male. "It is a relatively rare syndrome, probably affecting only a small proportion of men

THERE was recently admitted to and treated at Duke Hospital a patient with cleidocranial dysostosis and a psychosis. The case was of especial interest because of the concatenation of the rare anatomic anomaly and schizophrenia. Particularly noteworthy in this case was the absence of psychotic manifestations in the patient's father, who possessed essentially the same physical defects to an even greater degree. The rarity of cleidocranial dysostosis, the constancy of the physical manifestations of the syndrome and the autosomal mendelian dominant mode of inheritance of the trait in at least the majority of instances1make it worth while to redescribe this condition and to report an additional case even if it were not for the unusual psychiatric implications. Cleidocranial dysostosis is a rare syndrome, affecting persons of both sexes and of all ages, and occurs in diverse racial and national groups. In 1760 Meckel2reported the case of

A 9-year-old mentally retarded girl had a systematized leukoderma in the configuration of whorls and streaks that began during the first year of life. No other family members were affected. Histologic examination of a hypopigmented area revealed decreased amount and patchy distribution of melanin in the basal layer of the epidermis. There was no loss of pigment into the underlying dermis. The clinical and histologic features of this case correspond to those previously reported in the Japanese and European literature as incontinentia pigmenti achromians (Ito). Although certain clinical features of this rare syndrome are similar to those found in incontinentia pigmenti (Bloch-Sulzberger), the relationship between the two remains unproved. At present it seems best to consider incontinentia pigmenti achromians as a variant of hypochromic nevus even as Ito did in describing the original case.

Excerpt Christian's Syndrome of Defects in Membranous Bones, Exophthalmos and Diabetes Insipidus is a rare syndrome of early childhood. Recently, (Archives of Internal Medicine, November 1928), I d...

The rare syndrome of hereditary cleidocranial dysostosis is characterized by defective ossification of the clavicles and the membranous bones of the cranium. The first case was reported by Morand, in 1766, and the second by Barlow, 1 in 1883. It was not until 1898, however, that the affection was brought into prominence by Marie and Sainton, 2 who described the condition under the name of hereditary cleidocranial dysostosis. In 1905, Villaret and Francoz 3 reported an instance of a woman and her three children who were all affected, and compiled forty-one additional cases from the literature. Fitzwilliams, 4 in 1910, observed two cases, and compiled and analyzed fifty-eight others. Langmead, 5 in 1916, reported the occurrence of eighteen cases in four generations, and observed seven of them. In the family forming the basis of this communication, nine cases have occurred in three generations. Five of these subjects have been observed

The association of multiple cutaneous angiomata and limb hypertrophy as a distinct clinical entity, rather than a coincidental combination of two unrelated anomalies, was first described by Trelat and Monad in 1896. Klippel and Trenaunay subsequently described this rare syndrome as "nevus variqueux osteohypertrophique"; and in a series of papers beginning in 1918, Parkes Weber1-5discussed the problem of hemangiectatic hypertrophy of limbs. Since that time a few other case reports of this syndrome have been reported.6-9However, the apparent rarity of this disorder and the interesting speculative relationship with several other obscure entities, including Maffucci's syndrome, have prompted this report. Report of a Case A 16-year-old white youth was admitted for treatment of a chronic leg ulcer which had its origin six months previously following an episode of minor trauma to the right lower leg. The patient gave a history of previous poor healing of wounds incurred

Periodic paralysis is a rare syndrome characterized by brief episodes of weakness or paralysis of skeletal muscles. Infrequently seen and poorly understood, this syndrome has been of interest primarily to neurologists and to those investigating the metabolism of skeletal muscle. A wider appreciation of periodic paralysis is warranted, however, because of the occasional concurrent appearance of this syndrome with hyperthyroidism. In this unusual situation, previously reported in only 14 patients in the United States, the striking episodes of muscle weakness may predominate in the early clinical course. Recognition of the associated hyperthyroidism is mandatory because adequate relief of both aspects of this combination is achieved only when euthyroidism is reestablished. A recent patient, the 15th to be reported from this country, illustrates the clinical course and the results obtained by subtotal thyroidectomy. Report of a Case A 24-year-old Latin-American male college student was first seen at the Veterans Administration Hospital

A 5-day-old infant with a pulsatile abdominal mass was studied by angiography and found to have a congenital cardiac diverticulum of the muscular type. Because of the presence of intracardiac defects and dextroposition, an abnormal lower sternum, diastasis recti and an anterior diaphragmatic defect, this case is felt to represent a variant to a rare syndrome previously described.

Band-shaped opacity of the cornea is a rare disease, first described by Dixon,1in his textbook on diseases of the eye in 1848, as a "curious form of opacity depending upon the spontaneous deposit of earthy salts between the epithelium and the anterior surface of the cornea." Dixon therefore named this condition "calcareous film of the cornea." Since Dixon's report, the literature has added little to the knowledge of this condition. However, as more cases were recognized it became apparent that this disease is of several types.2By far the most common type is seen in old people, usually with sightless, degenerated and often shrunken eyes, the result of long-standing iridocyclitis due to any of a number of causes, including glaucoma and sympathetic ophthalmia. Occasionally it occurs in an elderly person with otherwise normal eyes. The pathogenesis of this type is probably a degenerative process associated with advancing