Exploring the intersection of tuberous sclerosis and precocious puberty unveiled by hematocolpos

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. Further investigation revealed additional clinical features including academic struggles, mood swings, and cutaneous findings, prompting consideration of a neurocutaneous syndrome. Magnetic Resonance Imaging (MRI) revealed features consistent with tuberous sclerosis complex (TSC), including radial migration lines in the subcortical white matter and an incidental arachnoid cyst. Notably, this case exhibited a unique presentation with absence of typical TSC findings such as subependymal nodules or cortical tubers. Additionally, precocious puberty, rarely associated with TSC, was observed, suggesting a potential link between hypothalamic lesions and hormonal imbalance. This case underscores the importance of comprehensive evaluation in pediatric patients presenting with seemingly unrelated symptoms, as it may unveil underlying conditions necessitating tailored management strategies.

FSH:

Follicle stimulating hormone

LH:

Luteinizing hormone

Pg:

Picogram

IU:

International unit

Authors and Affiliations

1. Department of Radiodiagnosis, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India

   Ramandeep Singh & Sameer Peer

2. Child Neurology Division, Department of Pediatrics, All India Institute of Medical Sciences, Bathinda, Punjab, 151001, India

   Arvinder Wander

Corresponding author

Correspondence to Arvinder Wander.

Ethical approval

The institutional ethical review board granted a waiver for ethical clearance for this report as no ethical issues were found. An informed and written consent from the next of kin of the patient was taken for the publication of this report.

Conflict of interest

None.

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