Asymptomatic Hypernatremia in an Infant with Midline Defects

Area of Science:

• Developmental biology
• Pediatric neurology
• Clinical genetics

Background:

• Holoprosencephaly (HPE) results from incomplete forebrain cleavage during embryonic development, leading to varying degrees of cerebral hemisphere non-separation.
• Midline clefts, a common congenital malformation, are often associated with significant central nervous system and pituitary abnormalities.
• Early identification of HPE and associated endocrine disorders is critical for timely management.

Observation:

• A case report details an infant presenting with a midline cleft who was found to have asymptomatic holoprosencephaly and electrolyte abnormalities.
• Further investigation revealed isolated central diabetes insipidus, which responded well to oral desmopressin treatment.
• This case highlights the importance of thorough evaluation in infants with midline clefts.

Findings:

• The infant diagnosed with holoprosencephaly also exhibited central diabetes insipidus, a condition affecting water balance.
• Treatment with desmopressin was effective in managing the diabetes insipidus.
• The co-occurrence underscores the syndromic nature of certain congenital anomalies.

Implications:

• This case emphasizes the critical need for awareness regarding the potential association between midline clefts and pituitary dysfunction, including central diabetes insipidus.
• Comprehensive preoperative evaluation in infants with clefts should include screening for endocrine abnormalities.
• Early diagnosis and intervention for HPE and associated conditions can significantly improve patient outcomes.