Introduction: Pallister Hall Syndrome (PHS) is a rare autosomal dominant disorder clinically diagnosed by hypothalamic hamartoma, mesoaxial or postaxial polydactyly, and can have several endocrine abnormalities associated with.
Case: We report a case of a 7 year old boy presented with precocious puberty and short stature. He was the youngest of 11 siblings, who used to have laughing spells and global developmental delay till four years of age. He had an MRI, which showed a hypothalamic hamartoma, and a normal EEG. Following which he developed generalized tonic-clonic seizures lasting a few minutes following which he used to sleep for 23 hours; accompanied with the laughing spells, uncontrolled on anti-epileptics. The boy continued to have speech and cognitive delays. The child started pubarche at 6 six years of age and was brought to us at 7 years for evaluation of puberty. He was diagnosed as proband Pallister Hall syndrome with precocious puberty with hypothyroidism with gelastic and generalized tonic clonic seizures. He was started on a combination on phenytoin and levetriacetam, thyroxine 50 ugms, and GnRH analogues. Surgery was deferred in this case and the child is under regular follow up.
Conclusion: It however needs a high index of suspicion and knowledge of the spectrum of neurological and endocrine associations to monitor and treat such children.
27 - 29 Sep 2018
European Society for Paediatric Endocrinology