Hypothalamic hamartoma in a child with Pallister-Hall syndrome: Report of a rare lesion successfully managed with multidisciplinary approach.
AI interpretation is pending for this paper.
Open original publication →What the AI sees
Not AI summarized yet.
Research significance
Pending deeper interpretation.
Source abstract
Hypothalamic hamartomas (HH) are rare, benign malformations of the hypothalamus, often presenting with gelastic seizures, developmental delays, and endocrine abnormalities. These lesions can disrupt normal hypothalamic function, resulting in gelastic seizures, endocrine abnormalities, and neurocognitive or behavioral disturbances. HHs may be associated with syndromic conditions like Pallister-Hall syndrome. We report the case of a 2-year-old female with gelastic seizures, syndactyly, polydactyly, and urogenital anomalies, suggestive of Pallister-Hall syndrome. The electroencephalogram was normal, and magnetic resonance imaging of the brain showed a well-defined, mildly T2 hyperintense, T1 isointense, non-enhancing lesion in the suprasellar region. The patient underwent subtotal resection and disconnection of the hypothalamic mass, which was histopathologically confirmed as HH. Postoperatively, she developed transient diabetes insipidus (DI), followed by syndrome of inappropriate antidiuretic hormone secretion (SIADH), both of which resolved with appropriate management. This case underscores the importance of recognizing HH as a rare but distinct lesion with characteristic clinical and radiologic features. Early diagnosis is crucial for appropriate management and for preventing long-term neuroendocrine and behavioural complications. A multidisciplinary approach is essential for diagnosing and managing HH, especially when associated with syndromic features. This case adds to the existing literature by highlighting the surgical and endocrine management challenges in syndromic HH.