Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy.

This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism. The neurological examination was normal, suggesting possible endocrine pathology. At that time, laboratory investigations showed a normal complete blood count; electrolyte levels were normal, while the thyroid function test revealed abnormal findings indicative of secondary hypothyroidism. Based on his clinical presentation, physical examination and laboratory investigations, a brain MRI scan was performed, which showed PSIS with diffuse FCD. Subsequently, anterior pituitary gland hormone levels were measured, revealing panhypopituitarism. This discovery is novel in the literature, offers potential new insights into the pathophysiology of PSIS and emphasises the importance of considering structural brain abnormalities in PSIS patients with seizures, thereby opening new avenues for future research on their neurological consequences.