A male neonate presented with severe respiratory distress that required tracheostomy. [nature.com]

The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. [hon.ch]

Pelizaeus-Merzbacher disease is divided into classic and connatal (present from birth) types. Although these two types differ in severity, their features can overlap. Classic Pelizaeus-Merzbacher disease is the more common type. [medlineplus.gov]

Elenco Malattie Rare rilevate in Regione Toscana Le malattie rare rilevate in Toscana attraverso il Registro Toscano Malattie Rare sono distinte in 2 tipologie: esenti a livello nazionale (codice di esenzione presente nel DPCM 12/01/2017) non esenti [malattierare.toscana.it]

• Stridor

  Even in the absence of nystagmus, we should consider PMD as a differential diagnosis for a male infant with stridor and hypotonia. [nature.com]

  Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and [medlineplus.gov]

• Respiratory Distress

  A male neonate presented with severe respiratory distress that required tracheostomy. [nature.com]

• Nystagmus

  Clinical diagnosis of PMD was first suspected when nystagmus was noted at 50 days. This finding is often observed. [nature.com]

  Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS, CONGENITAL. Death occurs by the third decade of life. [hon.ch]

  Within the first year of life, those affected with classic Pelizaeus-Merzbacher disease typically experience weak muscle tone (hypotonia), involuntary movements of the eyes (nystagmus), and delayed development of motor skills, such as sitting or grasping [medlineplus.gov]

• Spastic Paraplegia

  PLP1-related inherited dysmyelinating disorders: Pelizaeus-Merzbacher disease and spastic paraplegia type 2. Neurogenetics. 2005 Feb;6(1):1-16. doi: 10.1007/s10048-004-0207-y. Epub 2004 Dec 31. [medlineplus.gov]

• Polyneuropathy

  Guillain barré syndrome and other inflammatory polyneuropathies. [pascal-francis.inist.fr]

• Seizure

  Symptoms can begin in infancy and include problems with feeding, poor weight gain and slow growth, high-pitched breathing caused by an obstructed airway (stridor), nystagmus, progressive speech difficulties (dysarthria), severe ataxia, hypotonia, and seizures [medlineplus.gov]

• Guillain-Barré Syndrome

  Guillain barré syndrome and other inflammatory polyneuropathies. [pascal-francis.inist.fr]

Leukodystrophies: classification, diagnosis, and treatment. Neurologist. 2009; 15:319-28, http://dx.doi.org/10.1097/NRL.0b013e3181b287c8 [ Links ] 15. Yang E, Prabhu SP. [scielo.org.mx]

Epidemiological, clinical, and genetic landscapes of hypomyelinating leukodystrophies. J Neurol 2014; 261: 752–758. Article Google Scholar 3 Sumida K, Inoue K, Takanashi J, Sasaki M, Watanabe K, Suzuki M et al. [nature.com]

Still other mutations delete the PLP1 gene, which prevents proteolipid protein 1 and DM20 protein production and results in a lack of these proteins in the cell membrane, which causes any myelin that is formed to be unstable and quickly broken down. [medlineplus.gov]