Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis

Michael C. Kruer, Peter Blasco, James (Jim) Anderson, Dianna M E Bardo, Joseph Pinter

Research output: Contribution to journalArticle

1 Citation (Scopus)

Abstract

We report on a 16-month-old girl with developmental motor delay, microcephaly, and mild truncal ataxia who was revealed to have rhombencephalosynapsis on magnetic resonance imaging. The child was nonsyndromic and exhibited normal cognitive and social abilities for her age, despite neuroimaging findings. As this case demonstrates, motor skills in children with isolated rhombencephalosynapsis may be relatively mildly affected, and cognition may be normal despite the presence of a major central nervous system anomaly. Neuroimaging may be helpful in defining the nature of a child's deficits at an early age, particularly when associated with microcephaly and abnormalities on neurologic examination.

Original languageEnglish (US)
Pages (from-to)229-231
Number of pages3
JournalPediatric Neurology
Volume41
Issue number3
DOIs
StatePublished - Sep 2009

Fingerprint

Muscle Hypotonia
Ataxia
Microcephaly
Neuroimaging
Nervous System Malformations
Motor Skills
Neurologic Examination
Cognition
Central Nervous System
Magnetic Resonance Imaging

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience
  • Neurology

Cite this

Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis. / Kruer, Michael C.; Blasco, Peter; Anderson, James (Jim); Bardo, Dianna M E; Pinter, Joseph.

In: Pediatric Neurology, Vol. 41, No. 3, 09.2009, p. 229-231.

Research output: Contribution to journalArticle

Kruer, Michael C. ; Blasco, Peter ; Anderson, James (Jim) ; Bardo, Dianna M E ; Pinter, Joseph. / Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis. In: Pediatric Neurology. 2009 ; Vol. 41, No. 3. pp. 229-231.
@article{e68873329655449b92f7439fb1b7723c,
title = "Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis",
abstract = "We report on a 16-month-old girl with developmental motor delay, microcephaly, and mild truncal ataxia who was revealed to have rhombencephalosynapsis on magnetic resonance imaging. The child was nonsyndromic and exhibited normal cognitive and social abilities for her age, despite neuroimaging findings. As this case demonstrates, motor skills in children with isolated rhombencephalosynapsis may be relatively mildly affected, and cognition may be normal despite the presence of a major central nervous system anomaly. Neuroimaging may be helpful in defining the nature of a child's deficits at an early age, particularly when associated with microcephaly and abnormalities on neurologic examination.",
author = "Kruer, {Michael C.} and Peter Blasco and Anderson, {James (Jim)} and Bardo, {Dianna M E} and Joseph Pinter",
year = "2009",
month = "9",
doi = "10.1016/j.pediatrneurol.2009.04.003",
language = "English (US)",
volume = "41",
pages = "229--231",
journal = "Pediatric Neurology",
issn = "0887-8994",
publisher = "Elsevier Inc.",
number = "3",

}

TY - JOUR

T1 - Truncal Ataxia, Hypotonia, and Motor Delay With Isolated Rhombencephalosynapsis

AU - Kruer, Michael C.

AU - Blasco, Peter

AU - Anderson, James (Jim)

AU - Bardo, Dianna M E

AU - Pinter, Joseph

PY - 2009/9

Y1 - 2009/9

N2 - We report on a 16-month-old girl with developmental motor delay, microcephaly, and mild truncal ataxia who was revealed to have rhombencephalosynapsis on magnetic resonance imaging. The child was nonsyndromic and exhibited normal cognitive and social abilities for her age, despite neuroimaging findings. As this case demonstrates, motor skills in children with isolated rhombencephalosynapsis may be relatively mildly affected, and cognition may be normal despite the presence of a major central nervous system anomaly. Neuroimaging may be helpful in defining the nature of a child's deficits at an early age, particularly when associated with microcephaly and abnormalities on neurologic examination.

AB - We report on a 16-month-old girl with developmental motor delay, microcephaly, and mild truncal ataxia who was revealed to have rhombencephalosynapsis on magnetic resonance imaging. The child was nonsyndromic and exhibited normal cognitive and social abilities for her age, despite neuroimaging findings. As this case demonstrates, motor skills in children with isolated rhombencephalosynapsis may be relatively mildly affected, and cognition may be normal despite the presence of a major central nervous system anomaly. Neuroimaging may be helpful in defining the nature of a child's deficits at an early age, particularly when associated with microcephaly and abnormalities on neurologic examination.

UR - http://www.scopus.com/inward/record.url?scp=67949122054&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=67949122054&partnerID=8YFLogxK

U2 - 10.1016/j.pediatrneurol.2009.04.003

DO - 10.1016/j.pediatrneurol.2009.04.003

M3 - Article

VL - 41

SP - 229

EP - 231

JO - Pediatric Neurology

JF - Pediatric Neurology

SN - 0887-8994

IS - 3

ER -