Causes and risk factors
Too many nerve cells are produced which result in macrencephaly either during development or as a result of other disease condition like Alexander’s disease, neurofibromatosis, Canavan’s disease, Tay-Sachs’s disease.
Clinical presentation
The child presents with abnormally large sized, asymmetrical head. There is delayed development. Mental retardation is evident. Seizures can occur in the child. There can be partial paralysis.
Investigations
Medical history by the patient and clinical examination by the doctor helps in diagnosis. Fetal ultrasound to identify the presentation within the womb is advised. CT scan and MRI scan in neonates is required. Electroencephalogram [EEG] is recommended.
Treatment
No treatment is available for macrencephaly. Underlying cause must be treated. Supportive care for developmental delays, mental retardation is given. Medications for seizures, paralysis are given.
Complications
Complications such as mental retardation, complete paralysis, epilepsy can occur.
When to Contact a Doctor
Since the condition is usually seen at birth, the doctor will take necessary steps.
Prevention
Fetal ultrasound to identify the presentation within the womb prevents the disease and further complications.
Systems involved
CNS
Organs involved
Brain, head
