[MIM 213 900, 312 080]

(Pelizaeus-Merzbacher soudanophilic leucodystrophy)

Prevalence: 1/100,000 to 1/1.000.000. X-linked dominant or recessive transmission of a mutation or alterations of the PLP1 gene (Xq22) coding for the proteolipid protein PLP1, the most abundant protein in the myelin sheath. It causes hypomyelination of the central nervous system . It is a form  of hypomyelinative leukodystrophy.

There are three forms:

-   neonatal form: (missense mutation): hypotonia, nystagmus, neonatal respiratory distress and stridor (related to a paralysis of the abductor muscles of the larynx?) , with subsequent motor and cognitive delay and spastic quadriparesis; early death

-   classical early form (duplication): in the first months of life onset of abnormal eye movements, laryngeal stridor,  hypotonia soon replaced by spasticity, choreoathetotic movements, pyramidal syndrome. Later: growth retardation, microcephaly; death during adolescence

-   late onset form, with varying degree of severity (nonsense mutation, deletion): minor developmental and motor retardation starting at 2-3 years of age, later associated with

a)        either spastic paraplegia, ataxia and/or mild intellectual deficit,

b)        either to a form with a peripheral neuropathy and complicated spastic paraplegia; nystagmus of low amplitude, stridor, pyramidal signs, convulsive seizures; kyphoscoliosis; dysarthria; microcephaly.

Some patients have a similar clinical picture and radiological images but without mutations in the PLP1 gene: they are classified as Pelizaeus-Merzbacher-like disease [MIM 213 900].

Anesthetic implications:

anesthesia of a multi-handicapped child; laryngeal stridor; trouble-free use of an epidural block with low concentrations of local anesthetic

References :

-        Tobias JD.
Anaesthetic considerations for the child with leukodystrophy.
Can J Anesth 1992; 39: 394-7.

-        Kamekura, Nobuhito et al.
General Anesthesia for a patient with Pelizaeus-Merzbacher disease.
Anesthesia Progress 2016; 63 : 91-4.

-        Patel R, Kahana M.
Anesthetic management of a pediatric patient with Pelizaeus-Merzbacher syndrome: a case report.
A&A Practice 2018; 11:351-2.

-        Kapoor R, Zavala AM, Van Meter A, Williams UU, Porche VH, Owusu-Agyemang P:
Anesthetic challenges and successful management of a child with Pelizaeus-Merzbacher disease using general and caudal anesthesia.
J Anaesthesiol Clin Pharmacol 2018, 34:250-1.

-        Kim H, Lim C:
General anesthesia for an adolescent with Pelizaeus-Merzbacher disease - a case report.
Anesth Pain Med 2019, 14:44-7.

-         Maruta T, Watanabe Y, Nagata Y, et al.
Epidural anesthesia and continuous epidural analgesia in a pediatric patient with Pelizaeus-Merzbacher disease: a case report.
Cureus 2022 ; 14: e29983. DOI 10.7759/cureus.29983

Updated: October 2022