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Pituitary stalk interruption syndrome with coexistent focal cortical dysplasia in a young boy
Ameena Khaled Alaqili1, Raafat Hammad Seroor Jadah2, Haya Mohammed Alkhayyat2
1Bahrain Defence Force Royal Medical Services, Riffa, Bahrain ameenaalaqili@gmail.com.
Insights
This case report details the first documented instance of pituitary stalk interruption syndrome (PSIS) coexisting with focal cortical dysplasia (FCD) in a young boy. The findings highlight the importance of investigating brain abnormalities in PSIS patients presenting with seizures.
Area of Science:
- Pediatric Endocrinology
- Pediatric Neurology
- Neuroimaging
Background:
- Pituitary stalk interruption syndrome (PSIS) is a rare congenital condition affecting pituitary gland development.
- Focal cortical dysplasia (FCD) is a common cause of intractable epilepsy in children.
- The co-occurrence of PSIS and FCD has not been previously reported.
Purpose of the Study:
- To report the first documented case of PSIS with coexistent FCD.
- To investigate the clinical presentation, diagnostic findings, and potential pathophysiological links.
- To emphasize the importance of considering structural brain abnormalities in PSIS patients with neurological symptoms.
Main Methods:
- Case report of a young boy presenting with seizures.
- Clinical examination, laboratory investigations (hormone levels, thyroid function tests).
- Brain MRI to identify structural abnormalities.
Main Results:
- The patient presented with generalized tonic-clonic seizures, short stature, obesity, micropenis, and cryptorchidism.
- Investigations revealed secondary hypothyroidism and panhypopituitarism.
- Brain MRI demonstrated PSIS with diffuse FCD.
Conclusions:
- This case represents the first documented co-occurrence of PSIS and FCD.
- The findings suggest a potential link between these conditions and highlight the need for comprehensive neurological and endocrine evaluation in affected children.
- Further research is warranted to explore the neurological consequences and underlying pathophysiology.
Abstract:
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.
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