A Child With Advanced Mucopolysaccharidosis Presenting With Severe Behavioural Problems
- Author:
Sharmishtha S Deshpande
;
Ketki R Sathe
- Publication Type:Case Reports
- Keywords:
Mucopolysaccharidosis (MPS);
PDD;
Mental Retardation
- From:ASEAN Journal of Psychiatry
2015;16(1):127-130
- CountryMalaysia
- Language:English
-
Abstract:
Objective: Clinicians are less familiar with clinical presentation of rare disorder
like mucopolysaccharidosis (MPS), especially as presentation is complex and
varied with different subtypes of this disorder. This case report highlights severe
behavioural problems and non-recognition of MPS by clinicians. Though
behavioural problems, hyperactivity and aggression are common in children
suffering from mental disability, they are also seen in rare metabolic disorders
like MPS. Methods: We have reported a seven year old girl who presented with
severe episodes of hyperactivity, poor social interaction, impaired understanding
of speech and delay as well as regression in developmental milestones is
presented along with the investigations and treatment given. Results: Initially,
the child was thought to be suffering from intellectual subnormality and/or
pervasive developmental disorder. However, radiological studies showed x-ray
findings suggestive of MPS. Her developmental history, physical findings,
hearing loss as noted on BERA further supported this diagnosis. Due to financial
constraints of the family detailed investigations (enzyme assays) to know the
exact type of MPS could not be done. Behavioural problems had to be managed
with low dose clonazepam and carbamazepine. Conclusion: It is worth
considering metabolic disorders as one of the important differential diagnosis in
any child presenting with developmental problems, dysmorphic facies along with
behavioural problems.
- Full text:P020150206401432926228.pdf
