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Olivopontocerebellar hypoplasia

MedGen UID:
349144
Concept ID:
C1859341
Finding
Synonyms: Hypoplasia, Olivopontocerebellar; Olivopontocerebellar Hypoplasia; Olivopontocerebellar Hypoplasias
 
HPO: HP:0006955

Definition

Hypoplasia of the cerebellum, pontine nuclei, and inferior olivary nucleus. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVOlivopontocerebellar hypoplasia

Conditions with this feature

PMM2-congenital disorder of glycosylation
MedGen UID:
138111
Concept ID:
C0349653
Disease or Syndrome
PMM2-CDG, the most common of a group of disorders of abnormal glycosylation of N-linked oligosaccharides, is divided into three clinical stages: infantile multisystem, late-infantile and childhood ataxia–intellectual disability, and adult stable disability. The clinical manifestations and course are highly variable, ranging from infants who die in the first year of life to mildly affected adults. Clinical findings tend to be similar in sibs. In the infantile multisystem presentation, infants show axial hypotonia, hyporeflexia, esotropia, and developmental delay. Feeding problems, vomiting, faltering growth, and developmental delay are frequently seen. Subcutaneous fat may be excessive over the buttocks and suprapubic region. Two distinct clinical courses are observed: (1) a nonfatal neurologic course with faltering growth, strabismus, developmental delay, cerebellar hypoplasia, and hepatopathy in infancy followed by neuropathy and retinitis pigmentosa in the first or second decade; and (2) a more severe neurologic-multivisceral course with approximately 20% mortality in the first year of life. The late-infantile and childhood ataxia–intellectual disability stage, which begins between ages three and ten years, is characterized by hypotonia, ataxia, severely delayed language and motor development, inability to walk, and IQ of 40 to 70; other findings include seizures, stroke-like episodes or transient unilateral loss of function, coagulopathy, retinitis pigmentosa, joint contractures, and skeletal deformities. In the adult stable disability stage, intellectual ability is stable; peripheral neuropathy is variable, progressive retinitis pigmentosa and myopia are seen, thoracic and spinal deformities with osteoporosis worsen, and premature aging is observed; females may lack secondary sexual development and males may exhibit decreased testicular volume. Hypogonadotropic hypogonadism and coagulopathy may occur. The risk for deep venous thrombosis is increased.
Paine syndrome
MedGen UID:
234691
Concept ID:
C1412041
Disease or Syndrome
Mental retardation, microcephaly, spastic diplegia, seizures, and mild aminoaciduria are the principal features. Seemanova syndrome 1 and Paine syndrome are considered as variants of the same entity termed Paine-Seemanova syndrome.
Pontocerebellar hypoplasia type 5
MedGen UID:
341845
Concept ID:
C1857762
Disease or Syndrome
TSEN54 pontocerebellar hypoplasia (TSEN54-PCH) comprises three PCH phenotypes (PCH2, 4, and 5) that share characteristic neuroradiologic and neurologic findings. The three PCH phenotypes (which differ mainly in life expectancy) were considered to be distinct entities before their molecular basis was known. PCH2. Children usually succumb before age ten years (those with PCH4 and 5 usually succumb as neonates). Children with PCH2 have generalized clonus, uncoordinated sucking and swallowing, impaired cognitive development, lack of voluntary motor development, cortical blindness, and an increased risk for rhabdomyolysis during severe infections. Epilepsy is present in approximately 50%. PCH4. Neonates often have seizures, multiple joint contractures ("arthrogryposis"), generalized clonus, and central respiratory impairment. PCH5 resembles PCH4 and has been described in one family.

Professional guidelines

PubMed

Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029

Recent clinical studies

Etiology

Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N
Neuropediatrics 2003 Feb;34(1):1-6. doi: 10.1055/s-2003-38614. PMID: 12690561
Zec N, Rowitch DH, Bitgood MJ, Kinney HC
J Neuropathol Exp Neurol 1997 Mar;56(3):236-42. doi: 10.1097/00005072-199703000-00002. PMID: 9056537
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029

Diagnosis

Barth PG, Aronica E, de Vries L, Nikkels PG, Scheper W, Hoozemans JJ, Poll-The BT, Troost D
Acta Neuropathol 2007 Oct;114(4):373-86. Epub 2007 Jul 20 doi: 10.1007/s00401-007-0263-0. PMID: 17641900Free PMC Article
Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N
Neuropediatrics 2003 Feb;34(1):1-6. doi: 10.1055/s-2003-38614. PMID: 12690561
Grellner W, Rohde K, Wilske J
Forensic Sci Int 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. PMID: 10978619
Mitra AG, Salvino AR, Spence JE
Prenat Diagn 1999 Apr;19(4):375-8. doi: 10.1002/(sici)1097-0223(199904)19:4<375::aid-pd528>3.0.co;2-j. PMID: 10327146
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029

Prognosis

Patel MS, Becker LE, Toi A, Armstrong DL, Chitayat D
Am J Med Genet A 2006 Mar 15;140(6):594-603. doi: 10.1002/ajmg.a.31095. PMID: 16470708
Miossec-Chauvet E, Mikaeloff Y, Heron D, Merzoug V, Cormier-Daire V, de Lonlay P, Matthijs G, Van Hulle C, Ponsot G, Seta N
Neuropediatrics 2003 Feb;34(1):1-6. doi: 10.1055/s-2003-38614. PMID: 12690561
Grellner W, Rohde K, Wilske J
Forensic Sci Int 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. PMID: 10978619
Hashimoto K, Takeuchi Y, Kida Y, Hasegawa H, Kantake M, Sasaki A, Asanuma K, Isumi H, Takashima S
Brain Dev 1998 Apr;20(3):169-74. doi: 10.1016/s0387-7604(98)00014-x. PMID: 9628193
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029

Clinical prediction guides

Grellner W, Rohde K, Wilske J
Forensic Sci Int 2000 Sep 11;113(1-3):165-72. doi: 10.1016/s0379-0738(00)00270-x. PMID: 10978619
Rudnik-Schöneborn S, Forkert R, Hahnen E, Wirth B, Zerres K
Neuropediatrics 1996 Feb;27(1):8-15. doi: 10.1055/s-2007-973741. PMID: 8677029

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