Abstract
We present the case of a 6-year-old girl who initially presented with acute pelvic pain, ultimately diagnosed with imperforate hymen leading to hematocolpos. Furtherinvestigation revealed additional clinical features including academic struggles, mood swings, and cutaneous findings, prompting consideration of a neurocutaneoussyndrome. Magnetic Resonance Imaging (MRI) revealed features consistent with tuberous sclerosis complex (TSC), including radial migration lines in the subcorticalwhite matter and an incidental arachnoid cyst. Notably, this case exhibited a unique presentation with absence of typical TSC findings such as subependymal nodules orcortical tubers. Additionally, precocious puberty, rarely associated with TSC, was observed, suggesting a potential link between hypothalamic lesions and hormonalimbalance. This case underscores the importance of comprehensive evaluation in pediatric patients presenting with seemingly unrelated symptoms, as it may unveilunderlying conditions necessitating tailored management strategies.
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Schedule a callMore From: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
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