A case of progressive hydrocephalus and syringomyelia due to occipital encephalocele: Mechanisms of sibling onset and concomitant hydrocephalus

<p>Congenital anomalies such as neural tube defects (NTD), microcephaly, Chiari malformation, premature skull fusion, and syringomyelia are associated with 15-20% of occipital encephaloceles. NTDs are thought to develop as a result of environmental or genetic factors, or a combination of the two, and the onset of encephaloceles in siblings is uncommon. We present a case study of occipital encephalocele with hydrocephalus and syringomyelia in a patient with a sibling-onset encephalocele. A newborn girl with an occipital encephalocele is the patient. Her sister was born with an occipital encephalocele as well. Prenatal ultrasound confirmed both frontal bone depression and posterior cervical mass at 27 weeks pregnant. At 32 weeks pregnant, fetal magnetic resonance imaging revealed a posterior cervical encephalocele. The neural tissue had escaped from the cranium. It also revealed the herniation of the hindbrain. Syringomyelia was discovered between the lower cervical cord and the thoraco-lumbar spinal cord junction. At 38 weeks pregnant, the baby was delivered via scheduled cesarean section. A 4 cm diameter mass was discovered in the midline suboccipital to upper cervical vertebrae. She was diagnosed with syringomyelia and an occipital encephalocele. On the first day of her life, the child underwent encephalocele repair surgery. On the ninth day, however, the patient required another repair surgery for a cerebrospinal fluid leak. Following that, the encephalocele vanished and the syringomyelia improved, but the child required a VP shunt for progressive hydrocephalus at 3 months of age. The mechanisms of progressive hydrocephalus in a child with occipital encephalocele will be discussed. Hyperthermia, genetic background, maternal nutritional deficiency, aflatoxin, and other environmental factors are all risk factors for encephalocele. Concerning genetic factors, the incidence of NTDs among siblings is only about 2-5%, and there are still many unknowns in the encephalocele of genetic factors. Hydrocephalus has been reported in 60-90% of patients with occipital encephalocele, with 63% developing hydrocephalus after surgery. The causes of hydrocephalus include stenosis or torsion of the cerebrospinal fluid tract and venous sinus obstruction. After the encephalocele was repaired, subcutaneous fluid retention, which was thought to be CSF leak, was also observed. In this case, we can say that the changes in cerebrospinal fluid circulation and infection caused the hydrocephalus. In contrast to children with an encephalocele that did not have hydrocephalus or brain tissue, the presence of hydrocephalus resulted in a worse prognosis. We will keep a close eye on her future development.</p>