B. Thalassemia major.
C. Canavan’s disease.
D. All of the above.
Ans:D. All of the above
This condition is Macrocephaly
- It is defined as head circumference more than two standard deviations (SD) above the mean value for a given age and gender.
- It has to be differentiated from megalencephaly, which is defined as increase in the size of the brain parenchyma.
Enlargement of skull bones
- Hyperostosis cranii – associated with disorders such as osteogenesis imperfecta, achondroplasia, and osteopetrosis
- Secondary enlargement due to bone marrow expansion – as seen in thalassemia major
Increase in volume of cerebrospinal fluid
- Choroid plexus papilloma
- Benign familial macrocephaly(most common cause)
- Leukodystrophies(brain white matter degeneration) – Canavan disease, Alexander disease, megalencephalic leukoencephalopathy with subcortical cysts
- Lysosomal storage disorders
- Neurocutaneous disroders – Tuberous sclerosis, Sturge-weber syndrome, neurofibromatosis, Gorlin syndrome
- Autism spectrum disorder
- Other syndromes – Fragile X syndrome, Cowden syndrome, Sotos syndrome
Increased intracranial pressure (ICP)
- CNS infections
- Pseudotumor cerebri
Mass lesions and increase in volume of blood
- Intraventricular hemorrhage, subdural hematoma, arteriovenous malformation.