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Published on: February 29, 2020
Septooptic Dysplasia with an Associated Arachnoid Cyst
Skyler V McLaurin-Jiang1, Julie K Wood2, David F Crudo3
1Department of Pediatrics, Wake Forest School of Medicine, Winston-Salem, NC, USA.
Insights
Septo-optic dysplasia (SOD) is a rare condition diagnosed in an infant with hypopituitarism and optic nerve hypoplasia. Early hormone replacement therapy improved the infant's metabolic and thermoregulatory functions.
Area of Science:
- Pediatric Endocrinology
- Neuro-ophthalmology
- Developmental Pediatrics
Background:
- Septo-optic dysplasia (SOD) is a congenital disorder characterized by the triad of optic nerve hypoplasia, midline brain abnormalities, and pituitary hormone deficiencies.
- Patients often present with a spectrum of endocrine dysfunctions, including hypopituitarism, and visual impairments.
- Arachnoid cysts are occasionally associated with SOD, highlighting the complexity of midline developmental abnormalities.
Purpose of the Study:
- To report a case of septo-optic dysplasia (SOD) in a neonate presenting with multiple endocrine abnormalities and optic nerve hypoplasia.
- To emphasize the diagnostic challenges and the importance of thorough clinical evaluation and neuroimaging in suspected cases of SOD.
- To illustrate the positive impact of timely hormone replacement therapy on clinical outcomes in infants with SOD.
Main Methods:
- Case report of a 4-week-old male infant with hypothermia, hypoglycemia, and hyperbilirubinemia.
- Physical examination revealed dysmorphic features including retrognathia, hypotonia, micropenis, and clinodactyly.
- Diagnostic workup included ophthalmologic examination, laboratory tests for hormone levels, and brain magnetic resonance imaging (MRI).
Main Results:
- Ophthalmologic exam revealed bilateral optic nerve hypoplasia (ONH).
- Laboratory findings indicated inadequate cortisol and growth hormone response, low thyroxine, and direct hyperbilirubinemia.
- Brain MRI showed anterior pituitary hypoplasia, absent posterior pituitary bright spot, thin pituitary stalk, and bilateral ONH, confirming SOD diagnosis.
- Hormone replacement therapy with hydrocortisone and levothyroxine led to significant clinical improvement.
Conclusions:
- This case underscores the critical role of detailed physical examination and laboratory assessment in identifying SOD, especially in infants with pre-existing conditions like arachnoid cysts.
- Early diagnosis and initiation of appropriate hormone replacement are crucial for managing the endocrine and metabolic derangements associated with SOD.
- The association of arachnoid cysts with ONH and hypopituitarism warrants consideration in the diagnostic workup of midline brain abnormalities.
Abstract:
A 4-week-old male infant presented with hypothermia, hypoglycemia, and hyperbilirubinemia. His medical history was remarkable for hydrocephalus secondary to an arachnoid cyst, intermittent hypoglycemia, hypothermia, and poor feeding requiring nasogastric tube for nutrition. Physical exam revealed retrognathia, mild hypotonia, micropenis, and clinodactyly. Ophthalmologic exam demonstrated bilateral optic nerve hypoplasia (ONH). Laboratory data confirmed inadequate cortisol and growth hormone response to hypoglycemia, a low thyroxine level, and direct hyperbilirubinemia. Magnetic resonance imaging of the brain confirmed the known history of arachnoid cyst with hydrocephalus but also revealed anterior pituitary hypoplasia, absence of the posterior pituitary bright spot, a thin pituitary stalk, and bilateral optic nerve hypoplasia. A diagnosis of septooptic dysplasia (SOD) was made. Hormone replacement with hydrocortisone and levothyroxine was started with improvement in the infant's glycemic control, thermoregulation, feeding, and cholestasis. This case reinforces the importance of careful physical examination and laboratory review in a patient with known history of arachnoid cyst which has been previously described as an associated feature of optic nerve hypoplasia and hypopituitarism.
