Septo-optic dysplasia of brain
ICD-10 Q04.4 is a billable code used to indicate a diagnosis of septo-optic dysplasia of brain.
Septo-optic dysplasia (SOD) is a congenital malformation characterized by the underdevelopment of the optic nerve, agenesis or hypoplasia of the septum pellucidum, and often associated pituitary dysfunction. Clinically, patients may present with visual impairment, endocrine abnormalities, and neurological deficits. The condition is part of a spectrum of congenital malformations of the nervous system, which can include other anomalies such as anencephaly, spina bifida, hydrocephalus, microcephaly, and holoprosencephaly. Diagnosis typically involves neuroimaging studies such as MRI, which can reveal the structural brain abnormalities associated with SOD. The etiology is often multifactorial, involving genetic and environmental factors, and it may be associated with other syndromic conditions. Management is multidisciplinary, focusing on visual rehabilitation, hormonal replacement therapy, and supportive care for associated neurological deficits.
Detailed pediatric history including developmental milestones, visual assessments, and endocrine evaluations.
Assessment of a child with suspected SOD presenting with developmental delays and visual impairment.
Consideration of the child's growth patterns and potential need for hormonal therapy.
Genetic testing results, family history of congenital anomalies, and any syndromic associations.
Genetic counseling for families with a history of SOD or related conditions.
Understanding the genetic basis and potential inheritance patterns of SOD.
Used to confirm the diagnosis of SOD and assess associated brain anomalies.
MRI reports must clearly indicate findings consistent with SOD.
Pediatric radiology expertise may be required for accurate interpretation.
Common associated conditions include pituitary hormone deficiencies, developmental delays, and other congenital brain malformations. It is essential to document these conditions accurately to ensure proper coding and management.
