Case Report on Pelizaeus–Merzbacher Disease (PMD)

Ms. Jenifa Rohila Noronha¹, Ms. Sharin Neetal D’souza¹, Mrs. Shanthi S.²

¹II year M. Sc. nursing, Laxmi Memorial College of Nursing, Mangalore

²Assistant Professor, Pediatric Nursing Department, Laxmi Memorial College of Nursing, Mangalore

*Corresponding Author Email: jenifanoronha@gmail.com, dsouzasharin83@gmail.com, shantjoe82@gmail.com

ABSTRACT:

Pelizaeus–Merzbacher disease (PMD) is a central nervous system disorder in which coordination, motor abilities, and intellectual function are delayed to variable extents. Pelizaeus-Merzbacher disease is an inherited condition involving the brain and spinal cord. This report describes about 9 year old child with Pelizaeus Merzbacher disease, which is a rare condition.

KEY WORDS: Pelizaeus–Merzbacher disease.

CASE REPORT:

A 9 year old child admitted to the hospital with the history fever, excessive crying, poor intellectual capacity, weight loss. Child was normal till 1 ½ year old but child had developmental delay in attaining certain motor development like walking, standing. At a suddenly child developed regression in growth, child’s height was not increased, facial structure gives old man look, started to speak only in words like mamma, paa etc. At the age of 7 years MRI was taken and it shows that bilateral symmetrical T₁ hyperintensity in Putamin and hyper intense T₂ and flair signal in sub cortical and periventricular white matter. Internal capsule and cerebellar white matter bilaterally and macerocephaly

(Pelizaeus–Merzbacher disease):

This patient was a female born as the first child of her consanguineous parents. Mother had attended regular antenatal check up and child was born by normal vaginal delivery.

Hematological reports were within normal limit, C- reactive protein showed positive (6mg/l), there was a normal chest X-ray as well as USG abdominal report. Currently the child was on syp. Parecetamol 125mg/5ml SOS, syp. Timinic 5 drops BD.

DISCUSSION:

In 1885, a German physician named Pelizaeus described the condition later in 1910, another German physician named Merzbacher reexamined the symptoms of the disease. So the disease came in existence by combining 2 physicians name.¹ This disease is a rare X- linked disorder of proteolipid protein collectively known as leukodystrophies that affect growth of the myelin sheath, the fatty covering which acts as an insulator on nerve fibers in the CNS. PMD is generally caused by a recessive mutation of the gene on the long arm of the X-chromosome (Xq21-22) that codes for a myelin protein called proteolipid protein 1 or PLP1.²

The estimated prevalence is 1/400,000. PMD affects males but some female heterozygotes presenting with a milder phenotype have also been reported (PMD in female carriers; see this term). It is characterized by abnormal eye movements, very slow motor development, involuntary movements, strider, hypotonic, spasticity, impairment in head neck control, tremors in upper body when sitting commonly seen. In infancy we can also sees that feeding problems, progressive spasticity leading to joint deformities (contracture), restless movements, speech difficulty, ataxia, seizures.²

This disease can be diagnosed based on family history, MRI, prenatal diagnosis.² There is no cure for PMD, nor is there a standard course of treatment. Treatment, which is symptomatic and supportive, may include medication for seizures and spasticity. Regular evaluations by physical medicine and rehabilitation, orthopedic, developmental and neurologic specialists should be made to ensure optimal therapy and educational resources.¹

The prognosis for those with Pelizaeus Merzbacher disease is highly variable, with children with the most severe form (so-called connatal) usually not surviving to adolescence, but survival into the sixth or even seventh decades is possible, especially with attentive care. Genetic counseling should be provided to the family of a child with PMD.

CONCLUSION:

It is a genetic disorder. PMD is an X- linked recessive leukodystrophy that should be suspected in children with regression of milestones. Early prenatal checkup is very essential since the prognosis for this disease is very poor.

REFERENCE:

1. Martenson ER. Mylein biology and chemistry.1992. United States, Telfoard Publication.

2. Fatterpekar, Naidich, Som. The teaching files brain and spine.2012. Philadelphia. Elsevier Saunders Publications.

Received on 16.05.2015 Modified on 20.06.2015

Int. J. Nur. Edu. and Research 3(3):July-Sept., 2015; Page 333-332

DOI: 10.5958/2454-2660.2015.00018.6