Indian Journal of Medical Research

CLINICAL IMAGES
Year
: 2014  |  Volume : 140  |  Issue : 4  |  Page : 570--571

Cri-du-chat syndrome


R Nandhagopal1, AM Udayakumar2,  
1 Neurology Unit, Department of Medicine, Genetics Sultan Qaboos University Hospital, Muscat, Oman
2 Department of Medicine, Genetics Sultan Qaboos University Hospital, Muscat, Oman

Correspondence Address:
R Nandhagopal
Neurology Unit, Department of Medicine, Genetics Sultan Qaboos University Hospital, Muscat
Oman




How to cite this article:
Nandhagopal R, Udayakumar A M. Cri-du-chat syndrome.Indian J Med Res 2014;140:570-571


How to cite this URL:
Nandhagopal R, Udayakumar A M. Cri-du-chat syndrome. Indian J Med Res [serial online] 2014 [cited 2019 Aug 26 ];140:570-571
Available from: http://www.ijmr.org.in/text.asp?2014/140/4/570/146289


Full Text

A 19 year old girl, who presented to the Neurology unit of the department of Medicine, Sultan Qaboos University hospital (Oman) in July 2011, was evaluated for developmental delay, dysmorphic long narrow face, epicanthic folds, small ears, high pitched cat-like cry in early childhood and absence of expressive speech. Her metabolic work up for inborn error of metabolism was negative. Her karyotype ([Figure 1]A) demonstrated 46,XX,del(5)(p15). Fluorescence in situ hybridization (Figure B) showed telomeric deletion of 5p at region 15, confirming the diagnosis of Cri-du-chat syndrome [1],[2] . Brain MRI ([Figure 1]C-E) revealed complete agenesis of corpus callosum and pontine hypoplasia. {Figure 1}

The most frequent imaging finding in Cri-du-chat syndrome, a rare chromosomal disorder resulting from 5p deletion, is pontine hypoplasia [1],[2] . o0 ur patient had the association of callosal agenesis that has been only rarely reported in the literature [3] .

There is no specific therapy available for this condition [1],[2] . The patient received symptomatic treatment viz. risperidone for her behaviour problems (with occasional violence directed against her relatives that was related to intellectual impairment) with some improvement and was referred for neuro-rehabilitation. She continued to have language problems at two years of follow up.

References

1Cerruti Mainardi P. Cri du Chat syndrome. Orphanet J Rare Dis 2006; 1 : 33.
2Ninchoji T, Takanashi J. Pontine hypoplasia in 5p-syndrome: A key MRI finding for a diagnosis. Brain Dev 2010; 32 : 571-3.
3Vialard F, Robyr R, Hillion Y, Molina Gomes D, Selva J, Ville Y. Dandy-Walker syndrome and corpus callosum agenesis in 5p deletion. Prenat Diagn 2005; 25 : 311-3.