Knobloch Syndrome, a Rare Cause of Occipital Encephalocele and Seizures: A Case Report

<b><i>Background:</i></b> Knobloch syndrome (KS) is a rare autosomal recessive disorder associated with multiple ocular and cranial abnormalities. Occult occipital skull defect or encephalocele should raise suspicion of this disease. It is never reported in neurosurgical literature, possibly due to a lack of clinician familiarity, leading to underdiagnosis and inadequate management. Our patient also had seizures, which is a sporadic presentation of this syndrome. <b><i>Case Description:</i></b> Here, we report a clinico-radiologic finding of a 7-year-old boy who presented with seizures, cataracts, and an occipital bone defect along with bilateral subependymal heterotopias and polymicrogyria. <b><i>Conclusions:</i></b> This case highlights the importance of consideration of this syndrome in children with a midline occipital bone defect with or without encephalocele and seizures. Early recognition of this presentation is critical for obtaining access to appropriate genetic counseling and subsequent monitoring and prevention of complications by surgical intervention.

Iniencephaly: a rare birth defect

Iniencephaly is form of neural tube defect which includes occipital bone defect at foramen magnum along with fixed retroflexion of fetal head and absence of fetal neck. Incidence of iniencephaly is 0.1-10 in 10,000 pregnancies. There is a known female predilection for this condition. Iniencephaly has a poor prognosis. It can be diagnosed antenatally by raised maternal serum alpha-fetoprotein and typical ultrasound features. Termination should be advised to patients who present before 20 weeks. Herein we are describing a case of iniencephaly who presented at 27 weeks of gestation with a brief review of literature.

Suboccipital meningocele presenting as a huge retropharyngeal mass in a patient with neurofibromatosis Type 1

✓ The authors report an extremely rare case of neurofibromatosis Type 1 (NF1) with a suboccipital meningocele presenting as a huge retropharyngeal mass. A 73-year-old woman with typical cutaneous manifestations of NF1 presented with nasal obstruction and dysphagia due to a retropharyngeal mass. Magnetic resonance imaging revealed a huge mass lesion extending from the right occipital bone defect to the retropharynx through the right paravertebral region. Computerized tomography scanning after intrathecal administration of contrast material confirmed that the mass was a meningocele protruding through a right occipital bone defect. The authors attempted to ligate this meningocele, most of which was excised via a suboccipital approach, but a second transcervical operation was required. Finally, the meningocele resolved and the patient was discharged without symptoms.