CLINICAL ANALYSIS OF PKU WITH WEST
SYNDROME
Zhou Z-S, Yu W-M, Zheng C-N,
Ariizumi M-M
Department of Pediatrics
China-Japan friendship hospital, Beijing, China
Objective: To explore the etiology
of phenylketonuria (PKU) patients with West syndrome (WS) by clinical
analysis.
Subjects and Methods: Of 62 PKU patients with
WS (41males, 21females), the age at WS onset ranged mainly from 4 to 18
months and PKU diagnostic ages of the first time were between 4 months and
7 years. The serum level of phenylalanine (PHE) indicated above 20mg/dl in
all patients. All the patients received diet therapy and EEG examination.
MRI was undergone and brain maturation was observed with staudt�s method in
15 patients.
Result: 1. PKU patients had a high incidence of WS, accounting
for 12.2% of PKU patients experienced in our hospital (62/503). In respect
to the starting age of the treatment, 3 months suffered from WS. In
contrast, 12.2%PKU patients older than 3 months at onset of the treatment
got WS. 2. At the beginning of seizure, flexor type appeared rather common
compared to other 3 types containing mixed type, extensor type and atypical
seizure. 3. PKU-WS patients had delayed myelination (100%) mainly in brain
lobes and corpus callsom. Meanwhile, their T2-weighted images demonstrated
the abnormal high signal intensity in the peripheral region around anterior
and posterior horns and the central of both lateral ventricles. With
reduction of serum PHE level during diet therapy, delayed myelination and
abnormal high T2-sign on MRI image could recover gradually. By
comparison, the delayed myelination was fond in only 62% of PKU patients
without WS. 4. The seizure frequency was decreased when PHE concentration
was diminished under 4 mg/dl gradually. Once combined with anti-epileptic
treatment (valproate and/or nitrazepam), the patients mostly ceased seizure
in 3 to 9 months.
Conclusion: 1. PKU patients have a
high occurrence of WS. The occurrence of WS in PKU patients is closely
related to not only PHE serum level but also to the age of starting
treatment. 2. MRI images of PKU-WS patients showed a high incidence of
delayed myelination and abnormal high T2-sign. With reduction of PHE in
blood, delayed myelination, abnormal high T2-sign and the frequency of
seizure decreased. 3. Early diagnosis and dietary treatment of PKU is
importent for preventing and controlling seizure PKU-WS.