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An 11-month old girl is presented to you for developmental delay. The child started to roll over at four months of age and sit independently at approximately seven months of age. Afterwards, she gradually regressed and could no longer achieve these motor milestones. In the past few weeks, she lost the ability to hold her head straight or bear weight on her legs. Her babbling and smiling have decreased, and she does not seem to be interested in her surroundings. The pregnancy and delivery were uneventful, and there is no history of neonatal complications, febrile illnesses or head injuries. The family reports that she received her first three pentavalent immunizations. An analysis of family history was negative for developmental delay; however, the parents are distant cousins.
On examination, the child was unable to sit, roll or bear weight on her legs. Her eyes fixed poorly on objects and she did not reach for them. Her trunk and limb muscular tone was poor, while the muscle bulk remained normal. Deep tendon reflexes were hard to obtain. In view of the developmental deterioration and abnormal neurological examination, the patient was referred to a paediatric neurologist.
The Canadian Paediatric Surveillance Program (CPSP) is a joint project of the Canadian Paediatric Society and the Public Health Agency of Canada, which undertakes the surveillance of rare diseases and conditions in children and youth. For more information, visit our Web site at <www.cps.ca/cpsp>.