A rare variation of hydranencephaly: case report

Abstract

Hydranencephaly is a rare congenital abnormality characterized by the absence and replacement of the cerebral hemispheres with cerebrospinal fluid. Here, we present an ultrasonographic diagnosis of a case of a rare variant of fetal hydranencephaly at 38 weeks of gestation. Obstetric sonography revealed the absence of the cerebral cortex, thalami and basal ganglia with a disrupted falx and preserved posterior fossa structures. This is the first reported case of hydranencephaly with the absence of the thalami and basal ganglia, which was diagnosed prenatally. The diagnosis was confirmed with postnatal computed tomography. The early prenatal diagnosis allowed for prompt obstetric attention at a tertiary care hospital which had specialized pediatric facilities including prenatal counseling and support.

Case Report: Hydranencephaly in a female newborn with congenital cytomegalovirus infection

“…Patients generally die before birth or within the first year of life. 1 Treatment of hydranencephaly is only supportive and symptomatic, and the choice of therapy should be discussed with the family in detail. The failure of surgery to improve cognitive function must be balanced with stabilization of increased ICP and head size.…”

“…It is characterized by massive hemispheric necrosis and ventricular dilatation with most of the cerebral hemispheres being replaced by membranous sacs filled with cerebrospinal fluid (CSF). 1,2 This abnormality is very rare and unique with an incidence rate of less than one per 10,000 births in the world. 1 Although there are many studies on hydranencephaly, some aspects of hydranencephaly are still being debated in terms of pathogenesis, onset, clinical manifestations, and prognosis.…”

“…1,2 This abnormality is very rare and unique with an incidence rate of less than one per 10,000 births in the world. 1 Although there are many studies on hydranencephaly, some aspects of hydranencephaly are still being debated in terms of pathogenesis, onset, clinical manifestations, and prognosis. 2 Intrauterine lesions to the bilateral supra-clinoid internal carotid arteries are thought to be the underlying pathophysiology of hydranencephaly, which leads to resorption of brain tissue usually supplied by the anterior circulation.…”

Prenatal Differential Diagnosis and Prospective Management of Hydranencephaly

“…Cerebral cortex tissue is replaced with cerebrospinal fl uid, necrotic glial, and/or ependymal debris fi lled sac covered in membranous leptomeninges. 1,2 It is one of the most rare severe forms of bilateral cerebral cortical anomaly which only affects approximately 2.1 to 20 out of 100,000 births or pregnancies; and shares close resemblance with other conditions, such as: hydrocephalus, holoproscencephaly, porencephaly and schizencephaly. 2,3 A specifi c incidence especially in Indonesia is still diffi cult to determine with very limited data, and currently no case has been reported.…”

“…Despite recent medical advancements, doubts still persist on etiopathogenetic, onset, and diagnostic aspects of HE due to its similarity with conditions mentioned above. 1 HE commonly has a poor prognosis; since most affected individuals died in-utero or have a life expectancy of 1 year at most with a burden of developmental delay, drug-resistant seizures, spastic displegia, severe growth failure and respiratory infections. However, some survivors with proper maintenance of brainstem functions (temperature, blood pressure, and cardiovascular function) have been reported to survive at the age of 20, 22, and 32 years old respectively.…”