A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient.

Üstyol A, Takahashi S, Hatipoglu HU, Duman MA, Elevli M, Selçuk Duru HN. A novel mutation in SLC2A1 gene causing GLUT-1 deficiency syndrome in a young adult patient. Turk J Pediatr 2019; 61: 946-948. GLUT-1 deficiency syndrome is a rare, frequently unrecognized metabolic encephalopathy that is probably underdiagnosed. Although developmental delay, acquired microcephaly, spasticity, and impaired coordination were initially described as the classic findings, mild cases with no pronounced neuromotor compromise have since been included in the broad clinical spectrum with new mutations being identified more recently. We report a case of myoclonic seizures not responding to anti-epileptics since the age of one year in a 17-year-old patient with a normal phenotype and neuromotor development. Previously unreported p.Phe389Leu mutation was determined in the SLC2A1 gene in our patient. This case will be useful in clarifying the phenotype of GLUT-1 deficiency and reveals a new pathogenic mutation.

Lumbar Swelling as the Unusual Presentation of Henoch-Schonlein Purpura in a Child.

BACKGROUND: Henoch-Schönlein Purpura (HSP) is a systemic hypersensitivity disease of unknown cause that is characterized by a purpuric rash and systemic manifestations, such as colicky abdominal pain, polyarthralgia, and acute glomerulonephritis. Common complications of HSP that lead to surgical intervention include intussusception, perforation, necrosis, and massive gastrointestinal bleeding. Unusual clinical manifestations of HSP may include edema of the scrotum and eyes. Lumbar swelling is rarely seen as a complication of HSP. CASE REPORT: A four-year-old boy was admitted to our emergency room with a 7 day history of increasing abdominal pain. Within 48 hours of admission, erythematous macules and palpable purpuric lesions developed on the lower extremities. On the third day of hospitalization, sudden onset of severe back pain, swelling on the lumbar region and refusal to walk were seen. On the fifth day, lumbosacral edema and pain resolved but facial edema developed. He was diagnosed clinically with HSP. CONCLUSION: To the best of our knowledge, only a few cases of HSP with lumbar edema have been reported so far. If the first clinical symptoms of HSP are atypical, clinical progress can be atypical, too.