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Glutaric aciduria type 1 is a rare autosomal recessive disorder caused by a deficiency of glutaryl-CoA dehydrogenase, which is the key mitochondrial enzyme involved in the final degradation of lysine, L-hydroxylysine, and L-tryptophan. It is an inherited organic acidemia characterized by macrocephaly and dystonia, which results in high morbidity and mortality. In resource-limited countries like Nepal, where enzyme assays are not available, MRI has a great role to play in supporting diagnosis in such situations. Here, we present 2 cases of glutaric aciduria type 1 in brothers from the same parent that were diagnosed by MRI, and subsequent diet modification and L-carnitine therapy led to improvement of clinical symptoms.

Intussusception is one of the common conditions in children presenting with abdominal pain. The exact etiology of intussusception is unknown. Lead point is not identified in the majority of cases in children. Commonly, radiographic evidence suggests the presence of a target sign is diagnosis of intussusception. However, the presence of a double target sign in the case of intussusception is rare and depicts the presence of double intussusception. We present a case report of a 1-year-old child who presented to the emergency department with excessive crying for more than 10 hours. After the initial clinical assessment and acute management, an abdominal ultrasound revealed a double target sign on the sub-hepatic and left para-umbilical region which suggested double intussusception. No lead point was identified in our case. Early diagnosis and prompt treatment are the mainstay of management in such cases.

Pulmonary sequestration is a relatively rare phenomenon characterized by nonfunctional lung tissue supplied by one or more systemic arteries without direct connection to the tracheobronchial tree. Intra-lobar pulmonary sequestration comprises 75% of the total pulmonary sequestrations. Most patients with pulmonary sequestrations are often diagnosed with a childhood chest infection, so pulmonary sequestration is considered a childhood disease. However, few cases are found in adults and the elderly, with or without symptoms, and imaging findings on computed tomography (CT) or magnetic resonance imaging (MRI) are variable due to infection and inflammation. Failure to diagnose and treat this condition may lead to recurrent pneumonia and fatal hemoptysis. In this case report, we present cases of pulmonary sequestration at extremes of ages, one at 12 and the other at 65.

Primary intestinal lymphangiectasia (PIL) is a rare congenital disorder characterized by lymphatic system obstruction, resulting in the leakage of lymph into the bowel lumen. We present the case of a 6-year-old boy with recurrent diarrhea and weight loss. On examination, bilateral pitting edema in the lower limbs was observed. Laboratory investigations revealed hypoalbuminemia and lymphopenia. Contrast-enhanced CT of the abdomen showed thickening of the jejunum, echogenic fat islands, and enlarged lymph nodes in the mesentery. The diagnosis was confirmed by endoscopic biopsy. The patient was managed with a high-protein diet and replacement of the long-chain triglycerides with medium-chain triglycerides. Gradual improvement in symptoms was observed with regular follow-up. PIL is a protein-losing enteropathy that causes hypoproteinemia, hypolymphopenia, and hypoglobulinemia. PIL usually presents with peripheral edema, weight loss, abdominal pain, and chronic diarrhea. Diagnosis is based on characteristic endoscopic and histopathologic findings. Management involves a multidisciplinary approach, including nutritional modifications, medical therapy, and, in rare cases, surgical resection. PIL remains a challenging diagnosis due to its nonspecific clinical presentation. Clinicians should maintain awareness of this disorder for prompt identification and management.

Congenital pulmonary airway malformation (CPAM) is a rare congenital dysplastic malformation characterized by failure of bronchial development and localized glandular overgrowth. Previously known as Congenital Cystic Adenoid Malformation (CCAM), CPAM is classified into 5 types, from type 0 to type IV, depending upon the origin of pulmonary areas of the lung, cyst size, and cyst appearance. CPAM is a rare congenital anomaly typically diagnosed prenatally in ultrasound. However, few cases are diagnosed in childhood and even fewer in adulthood. CPAM can be differentiated from pulmonary sequestration based on the origin of the arterial supply; the former has its arterial supply from the pulmonary artery, whereas pulmonary sequestration has its arterial supply from the systemic circulation. Another differential diagnosis of CPAM includes congenital bronchogenic cyst, congenital lobar emphysema, pleuropulmonary blastoma, congenital cystic bronchiectasis, and congenital diaphragmatic hernia. The most common presentation is recurrent chest infection and chest pain, whereas other presentation includes pneumothorax and hemoptysis. Here, we present a case of a 6-year-old child with recurrent episodes of fever and cough diagnosed as a type II CPAM based on computed tomography findings.

High altitude cerebral edema (HACE) is a clinical spectrum of high-altitude illness. The working diagnosis of HACE should be based on the history of rapid ascent with signs of encephalopathy. Magnetic resonance imaging (MRI) can be crucial in the timely diagnosis of the condition. A 38-year-old female was airlifted from Everest base camp due to sudden onset of vertigo and dizziness. She had no significant medical or surgical history, and routine laboratory tests showed normal results. MRI was performed, which showed no abnormalities except for the detection of subcortical white matter and corpus callosum hemorrhages on susceptibility-weighted imaging (SWI). The patient was hospitalized for 2 days and treated with dexamethasone and oxygen, and had a smooth recovery during follow-up. HACE is a serious and potentially life-threatening condition that can occur in individuals who rapidly ascend to high altitudes. MRI is a valuable diagnostic tool in the evaluation of early HACE, and can detect various abnormalities in the brain that may indicate the presence of HACE, including micro-hemorrhages. Micro-hemorrhages are tiny areas of bleeding in the brain that may not be visible on other MRI sequences but can be detected on SWI. Clinicians especially radiologists, should be aware of the importance of SWI in the diagnosis of HACE, and ensure that it is included in the standard MRI protocol for evaluating individuals with high altitude-related illnesses for early diagnosis and appropriate treatment to prevent further neurological damage and improve patient outcomes.