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Journal of Public Health Policy and Planning | Volume 3

April 08-09, 2019 | Zurich, Switzerland

Health Care and Neuroscience

International Conference on

Progressive cavitating Leukoencephalopathy in an infant baby: A case report

Rayya A Almarwani

King Faisal Specialist Hospital and Research Center, Saudi Arabia

avitating leukoencephalopathy is a group of

disorders caused by multiple mitochondria

dysfunction

syndrome

(MMDS).

Multiple

genetic mutations have been identified in its

etiology including a mutation in the IBA57 gene

on chromosome 1q42. We present the case of

a 5-month-old boy who was diagnosed with

progressive cavitating leukoencephalopathy at

King Faisal specialist Hospital, Riyadh city, Saudi

Arabia. The patient presented with frequent

excessive crying since birth. He also had a history

of abnormal movement described as tonic spasm

of the upper limbs for few second, delayed

developmental milestones, and regression of the

achieved milestones. Neurological examination

of the patient was positive for horizontal eye

nystagmus and optic nerve atrophy, exaggerated

gag response, spastic tone that was more

prevalent in the upper limbs, and bilateral clonus.

The patient showed abnormal findings on MRI

including cavitation and cystic leukodystrophy,

and homozygosity mapping showed the IBA57

gene mutation. The patient died at the age of

7 months from progressive respiratory failure.

MMDS is a rare condition, and according to

available data, this case of MMDS is the first to be

reported in Saudi Arabia and in the Gulf region.

Speaker Biography

Rayya A Almarwani is senior pediatric neurology resident at King Faisal

Specialist Hospital and Research Center, Riyadh, Saudi Arabia. She has

completed her medical school 2014 from Faculty of Medicine, Tabuk

University.