Novel Mutation in Chromosome 11p15.4 Causing Niemann-Pick Disease Type A in a Saudi Child.

Niemann-Pick disease (NPD) encompasses a minimum of three lysosomal storage diseases, all of which are inherited in an autosomal recessive manner. Acid sphingomyelinase (ASM) deficiency is the cause of NPD types A and B. ASM is the enzyme that hydrolyzes the sphingolipid sphingomyelin. An 18-month-old patient with progressive painless abdominal distension with organomegaly and neurological deficits presented to our hospital. Brain imaging and laboratory findings did not show anything, but there was a millstone growth delay. The diagnosis of NPD type A was confirmed by a genetic examination, which revealed a twofold change on chromosome 11p15.4 in the region encoding the sphingomyelin phosphodiesterase-1 (SMPD1) gene. The patient was followed up with no specific treatment, and signs of respiratory infections were later reported.

Severe acute reentry high altitude pulmonary edema in pediatric patients: report of three cases and literature review.

BACKGROUND: High Altitude Pulmonary Edema (HAPE) is a fatal form of severe high-altitude illness. It is a form of noncardiogenic, noninfectious pulmonary edema secondary to alveolar hypoxia. The exact incidence of HAPE in children is unknown; however, most literature reports an incidence between 0.5-15%. There are three proposed HAPE types including classic HAPE, reentry HAPE, and high-altitude resident pulmonary edema (HARPE). CASE: We present three pediatric patients who were diagnosed with re-entry high altitude pulmonary edema and did not have any underlying cardiac abnormalities. All patients reside in areas of high altitude with a history of travelling to places of lower altitude. They had respiratory infections prior to the manifestation of HAPE. CONCLUSIONS: These are the first reported cases of children with reentry HAPE in Saudi Arabia. Reentry HAPE can occur in otherwise healthy children. Rapid ascent to high altitude and recent respiratory infections are the most commonly reported triggers. Prognosis is very favorable with a very rapid response to oxygen therapy. Education about HAPE is mandatory for families and health care workers working in high altitude areas.