went to a neurology meeting. saw and learn 2 weird & wonderful cases, congenital hypomyelinating neuropathy and a query of parkisonism. l
on the CHN,
the patient, a 7 month year old baby presented with recurrent chest infections. pregnancy was uncomplicated. good fetal movement were observed. familh hx is unremarkable.
O/E : patient is very hypotonic but with good muscle bulk (no obvious wasting), muscle is stronger distally than proximally. reflexes are absent.
inv : nerve biopsy, nerve conduction study, lumbar pucture for the CSF.
management: IV immunoglobulin & steroids.
differential : spinal muscular atrophy, congenital muscluar dystrophy
CHN is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. also known as charcoat marie tooth type 4E. little is known about the long-term outcome of neonates presenting with CHN, but the neonatal form appears to be more severe, often leading to early mortality.
on the CHN,
the patient, a 7 month year old baby presented with recurrent chest infections. pregnancy was uncomplicated. good fetal movement were observed. familh hx is unremarkable.
O/E : patient is very hypotonic but with good muscle bulk (no obvious wasting), muscle is stronger distally than proximally. reflexes are absent.
inv : nerve biopsy, nerve conduction study, lumbar pucture for the CSF.
management: IV immunoglobulin & steroids.
differential : spinal muscular atrophy, congenital muscluar dystrophy
CHN is a rare form of neonatal neuropathy that should be considered in the differential diagnosis of a newborn with profound hypotonia and weakness. also known as charcoat marie tooth type 4E. little is known about the long-term outcome of neonates presenting with CHN, but the neonatal form appears to be more severe, often leading to early mortality.
