Related Experiment Videos
[Long term survival of holoprosencephaly with shunting procedure (author's transl)]
Insights
This report details a rare case of holoprosencephaly with hydrocephalus in a male infant. Despite initial concerns, the child showed significant developmental progress, highlighting potential for positive outcomes.
Area of Science:
- Neuroscience
- Developmental Biology
- Pediatric Neurology
Background:
- Holoprosencephaly with hydrocephalus is a rare congenital condition.
- Long-term survival cases are infrequently reported in medical literature.
Observation:
- A male infant presented with congenital hydrocephalus and a large head circumference (49 cm at 3 days old).
- Diagnostic imaging revealed an azygos anterior cerebral artery, suspected absence of falx and fornix, and confirmed holoprosencephaly with hydrocephalus.
- No other external malformations were noted.
Findings:
- The infant underwent ventriculoperitoneal shunt placement at 22 days old.
- Remarkable developmental progress was observed post-discharge, including speech development and ambulation with assistance by age 4.5 years.
- Follow-up CT scans showed thickening of the frontal cerebral mantle.
Implications:
- This case suggests that even severe holoprosencephaly with hydrocephalus may allow for significant neurodevelopmental recovery.
- Early intervention, such as ventriculoperitoneal shunting, can positively impact outcomes.
- Further research into the pathogenesis and optimal treatment strategies for this condition is warranted.
Abstract:
A long survived case of holoprosencephaly with hydrocephalus has been infrequently reported in the literature. One such case were presented on this report. This male baby by cesarean section because of his large head circumferenced 45 cm. He was admitted to our clinic diagnosed as congenital hydrocephalus at the third day from birth. On admission the circumference of his head was measured 49 cm, but other external malformations were not noticed. Right transaxillary carotid angiogram showed anterior cerebral artery appeared like azygos anterior cerebral artery. Absence of falx and fornix were suspected pneumoventriculography and transillumination of the head. Finally he was diagnosed as holoprosencephaly accompanied with hydrocephalus by computed tomography. Ventriculo-peritoneal shunt was performed at the 22nd day of his life. On follow-up after discharge, mental and motor development was not so poor. He was able to speak a few of simple words one year after discharge. At present 4 years and 6 months after discharge, he can do simple conversation and walk with assistance. Repeated computed tomography shows the frontal cerebral mantle is thickening in 36 mm at present. Good resulted case of holoprosencephaly as presented here could not be found in the literature. The pathogenesis and treatment were also discussed here.