Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Susanne Christiansen; Laura Kirstine Sønderberg Roos; Maria J Miranda

Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Translated title of the contribution: Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome

Susanne Christiansen, Laura Kirstine Sønderberg Roos, Maria J Miranda

Abstract

The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.

Translated title of the contribution	Pontocerebellar hypoplasia is a rare cause of floppy infant syndrome
Original language	Danish
Journal	Ugeskrift for Laeger
Volume	177
Issue number	40
Pages (from-to)	V05150380
ISSN	0041-5782
Publication status	Published - 28 Sept 2015

Cite this

@article{4e6c9203d21945c083f76eb63dc95166,

title = "Pontocerebellar hypoplasi er en sj{\ae}lden {\aa}rsag til slapt sp{\ae}dbarn",

abstract = "The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.",

author = "Susanne Christiansen and Roos, {Laura Kirstine S{\o}nderberg} and Miranda, {Maria J}",

year = "2015",

month = sep,

day = "28",

language = "Dansk",

volume = "177",

pages = "V05150380",

journal = "Ugeskrift for Laeger",

issn = "0041-5782",

publisher = "Almindelige Danske Laegeforening",

number = "40",

}

TY - JOUR

T1 - Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

AU - Christiansen, Susanne

AU - Roos, Laura Kirstine Sønderberg

AU - Miranda, Maria J

PY - 2015/9/28

Y1 - 2015/9/28

N2 - The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.

AB - The hypotone neonate, floppy infant, often proves to be a diagnostic challenge, as the causes of floppy infant syndrome are many and often rare. In this case story a floppy girl was diagnosed with the rare, autosomal recessive disease pontocerebellar hypoplasia type I. The tests for the most common causes of floppy infant syndrome showed nothing abnormal, but an array comparative genomic hybridization test gave information of loss of heterozygosity. This helped to narrow the list of plausible diagnoses and eventually led to the diagnosis of pontocerebellar hypoplasia type I.

M3 - Tidsskriftartikel

C2 - 26418712

SN - 0041-5782

VL - 177

SP - V05150380

JO - Ugeskrift for Laeger

JF - Ugeskrift for Laeger

IS - 40

ER -

Pontocerebellar hypoplasi er en sjælden årsag til slapt spædbarn

Abstract

Fingerprint

Cite this