Focal seizures as first presentation of Pepper syndrome in a six-week-old girl

Clitoromegaly as first presentation of a neurocutaneous syndrome in a 3-year-old girl

A rare cause of clitoral hypertrophy in a child is neurofibromatosis type 1 (NF1). Although evaluation, including karyotype and hormonal studies, is necessary to exclude ambiguous genitalia, the diagnosis of neurofibromatosis as a possible cause of clitoromegaly may help avoid lengthy and sometimes invasive interventions.

A nine-week-old girl with fever and seizures

CASE PRESENTATION A nine-week-old girl presented to the emergency department with a 12 h history of fever and a 1 min generalized tonic-clonic seizure. Review of systems was otherwise negative. Her two-year-old sister experienced a fever and oropharyngeal ulcers two weeks before. On physical examination, she was febrile to 39.2°C rectal, but with otherwise normal vital signs. She was well-appea...

Epilepsy as the first presentation of arterial tortuosity syndrome in a young girl: a case report.

Arterial tortuosity syndrome (ATS) is an extremely rare autosomal recessive connective tissue disorder characterized by tortuosity and elongation of all major arteries. We report a clinical case of a girl with this rare condition, who initially presented with epilepsy. DSA or MRA revealed a severe arterial tortuosity. EEG showed epileptiform discharge in right frontotemporal hemisphere. Here, w...

first presentation of sickle cell anemia in a 3.5-year-old girl: a case report

First Presentation of Sickle Cell Anemia in A 3.5-Year-Old Girl: A Case Report

Dear Editor, Sickle cell disease is an inherited disorder of hemoglobin synthesis, which affects many individuals worldwide. Vaso-occlusive, aplastic and sequestration crises are common in a sickle cell child. One of the leading causes of death in children with sickle cell anemia is an acute splenic sequestration crisis. Children with splenic sequestration disease who have not yet undergone aut...