Title: Pelizaeus-Merzbacher disease - case report
- Barbara Kassur-Siemieńska, Hanna Mierzewska, Anita Rajchel, Waldemar Szapłyko, Dorota Dunin-Wąsowicz, Elżbieta Jurkiewicz, Bogumiła Milewska-Bobula
- Case Reports
- Pediatric Review
- Start page:
- Final page:
- Pelizaeus-Merzbacher disease, PMD, spastic paraplegia, SPG
We present a case ofPelizaeus-Merzbacher disease ina7 week old infant. Diagnosis was based on characteristic clinical signs and symptoms: mainly neurological, dysmyelinization ofthe brain in MRI, positive family history. As the symptoms were present in the neonatal period, the connatal form ofP elizaeus-Merzbacher disease was diagnosed.
Disturbance in myelin formation in the CNS is responsible for the clinical manifestation ofP elizaeus-Merzbacher disease and spastic paraplegia type II. Several clinical types ofthe disease are known. They can manifestfrom neonatal period till adulthood. The disease is transmitted by X-linked recessive inheritance. Genetic counseling is of utmost importance. It is well known that the disease is inherited in a recessive X-linked manner. Males with PMD fenotype are infertile, but with SPG can have children. Prenatal diagnosis ispossible infamilies with PMD disease history.