J Korean Child Neurol Soc.  2011 Aug;19(2):115-123.

Clinical Manifestations of Leukodystrophies: A Single Center Study

• Kang SY
• Yum MS
• Choi HW
• Lee EH
• Ko TS
• Yoo HW

Abstract

PURPOSE
Leukodystrophies have been defined as inherited metabolic disorders of myelin resulting in abnormal development or progressive destruction of the white matter. This study was performed to investigate the clinical manifestations and treatments of leukodystrophies in a single Korean tertiary center.
METHODS
We retrospectively analysed the medical records of patients who had been diagnosed with leukodystrophy from May 1995 to May 2010 at the Asan Medical Center.
RESULTS
During the 15-year study period, 36 cases of leukodystrophies were diagnosed with an verage age at symptom presentation of 49 months. Prominent symptoms at presentation were developmental delay (41%) and seizure (25%); however, nystagmus, developmental regression, hearing loss, gait disturbance, visual disturbance, attention deficit, hypotonia, hyperpigmentation, and hemiparesis were also observed. On MRI, periventricular involvement was noted frequently. The most common diagnoses were adrenoleukodystophy (25%), metachromatic leukodystrophy (11%), Krabbe disease (11%), and Pelizaeus-Merzbacher disease (8.3%). No final diagnosis was made in 14 cases (41%). Bone marrow transplantation was performed in 4 patients and showed favorable prognoses.
CONCLUSION
Clinical features of leukodystrophies are not specific to diagnosis and most leukodystrophies remain undiagnosed; however, a logical algorithm based on prevalence could aid the laboratory testing. Because early detection and diagnosis is crucial for treatment and prognosis, it is important to have a high index of suspicion and watchful screening of familial history.

Keyword

Leukodystrophy; Adrenoleukodystrophy; Metachromatic leukodystrophy; Krabbe disease; Canavan disease; Pelizaeus-Merzbacher disease

MeSH Terms

Adrenoleukodystrophy
Bone Marrow Transplantation
Canavan Disease
European Continental Ancestry Group
Gait
Hearing Loss
Humans
Hyperpigmentation
Leukodystrophy, Globoid Cell
Leukodystrophy, Metachromatic
Logic
Mass Screening
Medical Records
Muscle Hypotonia
Myelin Sheath
Paresis
Pelizaeus-Merzbacher Disease
Prevalence
Prognosis
Retrospective Studies
Seizures