RESUMO
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.
RESUMO
Potatoes are commonly consumed food item that contributes key nutrients to the diet including vitamin C, potassium, and dietary fiber. Despite their nutritional value, potato tuber may harm human health by virtue of their toxic glycoalkaloids (solanine). Acute solanine poisoning can happen from ingesting green or sprouted potatoes. The toxicity of Gas in humans causes mainly gastrointestinal disturbances such as vomiting, diarrhea, and abdominal pain. However, at higher doses, the toxicity of Gas in humans produces more severe symptoms, including fever, rapid pulse, low blood pressure, rapid respiration, and neurological disorders. Though potatoes are widely consumed, their toxicity is relatively rare. We came across a suspected case of poisoning by raw potato ingestion in an 11 years old Saudi boy who suffered cardiovascular complications, and was managed conservatively in pediatric ICU. The diagnosis was made based on history and clinical presentation. The patient recovered completely and was discharged with counseling.
