Allouzi Sana, Rihawi Baraa, Allouzi Joud, Allouzi Mohammad I, Abdulrahman Najwa, Abdullah Manar
Internal Medicine Department, Endocrinology Division.
Anesthesiology Department.
Ann Med Surg (Lond). 2023 Jul 8;85(8):4150-4152. doi: 10.1097/MS9.0000000000001048. eCollection 2023 Aug.
Cystic fibrosis is an autosomal recessive disorder that causes a broad range of clinical findings and can present unusually as electrolyte disturbance, such as hyponatremia that causes seizures in children.
We report a case of a 2-month-old infant who presented with an episode of grand mal seizure induced by hyponatremia and moderate episodes of milky vomiting after breastfeeding.
Proper investigations showed normal cardiac and renal functions. Ultrasonography showed no pathological changes. Laboratory tests performed showed hyponatremia, mild hypokalemia, and hypochloremia. Urinary electrolyte results were normal. While broadening the scope of differential diagnosis in order to reach a final diagnosis, the sweat chloride level was elevated, which confirmed the diagnosis of cystic fibroses.
We aim to share our case to keep cystic fibroses in mind as a differential diagnosis when dealing with hyponatremic seizures in children.
囊性纤维化是一种常染色体隐性疾病，可导致广泛的临床表现，且可能异常表现为电解质紊乱，如低钠血症，可致使儿童癫痫发作。
我们报告一例2个月大婴儿，因低钠血症引发一次癫痫大发作，并在母乳喂养后出现中度乳状呕吐发作。
适当检查显示心脏和肾功能正常。超声检查未发现病理变化。所做实验室检查显示低钠血症、轻度低钾血症和低氯血症。尿电解质结果正常。在扩大鉴别诊断范围以得出最终诊断时，汗液氯化物水平升高，从而确诊为囊性纤维化。
我们旨在分享此病例，以便在处理儿童低钠血症性癫痫发作时，将囊性纤维化作为鉴别诊断予以考虑。
