Cephaloceles are a form of neural tube disorders, in which the neural tube fails to close around the portion of the rostral neuropore. Thus, infants are born with a gap in their skulls, through which the brain tissue and meninges push through. The condition may be obvious as a skin covered sub-scalp lesion. Frontal cephaloceles extend into the root of the nose, whereas parietal forms present as hairless, well-marginated, scalp lesions, separated from the brain by the dura. In most cases, infants born with this condition have a poor prognosis and show mental impairment, or die early. Conditions like hydrocephaly and/or microcephaly may also accompany.
It is advised to conduct detailed neuro-imaging studies to understand the condition in each individual patient. CAT and MRI are the preferred methods. In most cases, prognosis depends, not only upon the existence of the cephalocele per se, but also on associated hidden brain abnormalities, not easily visible upon examination.
Mahapatra et al. (2001) reported an 18 hour-old male baby, born to consanguineous parents with a head circumference of 36 cm, who was referred with a swelling over the nasion with CSF leakage. The swelling (8 cm in diameter) extended over the nasal bone, forehead and the medial half of both eyes, making it impossible to determine the degree of hypertelorism, and was covered in healthy skin, except for the centre where it was excoriated and leaking CSF. Since CSF leak was a cause of meningitis, a priority one-stage surgical repair of the encephalocele was done on the fifth day after birth through a bicoronal craniotomy. The authors mentioned that this was the first neonate reported in the world literature in whom craniofacial surgery was done at the age of five days.
One year later, Mahapatra et al. (2002) reported a giant midline posteriorly situated encephalocele in a four-day old baby (third child of consanguineous parents) who was born by full term normal delivery. His head circumference was 30 cm while that of the encephalocele was 37 cm, which made it difficult to nurse the baby. There were no other congenital anomalies, and no family history of neural tube defects, and the other two siblings were normal. A large midline occipital encephalocele was confirmed by a non contrast CT scan of the brain with bone window, which showed it coming out above the torcula, close to the posterior fontanelle. Its content was largely fluid with a small amount of brain tissue at the depth near the neck, and it was divided into two sacs by a septum. The sacs were surgically excised and the hemorrhagic CSF drained out slowly BThe baby was breastfed after being fed with a nasogastric tube for several days, and was discharged after 10 days with no neurological deficits. There was no physical or mental abnormality after 20 months and repeat CT scan revealed normal brain with a malformed ventricular system.