Abstracts

Rationale: Wolf - Hirschhorn syndrome is one of contiguous gene syndromes due to deletion in the short arm of chromosome 4. The phenotype of these patients may vary depending on the extent of the deletion. Majority of patients clinically presents with seizures and other congenital abnormalities of the cardiac, renal, and skeletal systems. Rare reported cutaneous manifestations in this syndrome include skin tags, dry skin and hemangiomas. Methods: A case report of Wolf - Hirschhorn syndrome in a child with intractable epilepsy presenting with a distinct unilateral cutaneous lesion and a possible cortical malformation ipsilateral to the cutaneous finding Results: A 17 month old African American female was seen at 12 months of age during her first episode of febrile status epilepticus. Later she continued to present with unprovoked generalized tonic-clonic seizures and spasms. She was born at full term with significant low birth weight (intrauterine growth retardation). At 10 days of life she had a mild urinary tract infection and renal ultrasound showed bilateral renal cyst which persisted in her follow up scans. She had global developmental delay and her physical examination is significant for frontal bossing, high frontal hair line and a well defined caf au lait spot occupying medial half of her left gluteal region to midline and extends to the upper one third of the left leg. No other caf au lait spots or other cutaneous lesions were seen. Her neurological examination was significant for generalized hypotonia. EEG revealed multifocal epileptiform discharges predominantly in the posterior head regions. Her seizures were fairly controlled with a combination of topiramate, vigabatrin and clonazepam. MRI brain at 15 months of age showed increased perivascular spaces and lack of clear gray white differentiation over the left parieto-occipital region suspicious for a cortical malformation. Screening metabolic testing was unremarkable. Chromosomal microarray showed deletion (< 3.5 Mb) in the short arm of chromosome 4 (4p16.2p16.3) consistent with Wolf - Hirschhorn syndrome Conclusions: This is the first case in the literature which illustrates another cutaneous finding that can be seen in patients with Wolf - Hirschhorn syndrome. The presence of a distinct unilateral cutaneous lesion in patients with Wolf-Hirschhorn syndrome and epilepsy should also direct the need to screen for possible epileptic cortical malformation ipsilateral to the side of the skin findings.