Diagnostic Dilemma - Pediatric Oncall
What could be happening in this child. Is it an IEM
Author: bhaskar naik
Question.
This is a 10 months old female child born to consanguinous parents. Admitted with focal convulsions involving left lower limb. Past history of seizures on day 3 of life, and at 7 months of age, then EEG, CT brain and MRI brain done, were normal. There is mild delay in developmental milestones. On examination there is microcephaly, developmental delay, anemia with Hb 6.4 gm/dl, hepatomegaly, overlapping of 2nd and 3rd toes of both feet and more strikingly there is diffuse hardening of skin and surrounding tissue, skin not pinchable (skin texture like we see in scerema in neonates). Fundus examination normal, Liver functions normal, 2d echo normal, TSH 12.09 mIU/ml. In a 10 days of course in the hospital, child has gradual deterioration in terms of activity, sensorium, oral intake and respiratory pattern.

Answers of this discussion
Author :- RAMANI RANJAN on 20 July 2016.
Answer :- May be hypothyroidism with CP. Pls R, O Hypernatremia.

Author :- Rabia on 21 July 2016.
Answer :- downs syndrome

Author :- Vera Ivanova on 22 July 2016.
Answer :- congenital hypothyroidism

Author :- omar khalid on 23 July 2016.
Answer :- edward syndrom 18 trisomy

Author :- hany ibrahim on 26 July 2016.
Answer :- storage disease

Author :- GOLAM MORTUZA on 26 July 2016.
Answer :- Systemic Sclerosis

Author :- shailu pate on 02 August 2016.
Answer :- hypothyroidism

Author :- Dhafer AlShehri on 08 August 2016.
Answer :- Fanconi anemia

Author :- Rabi Kumar on 09 August 2016.
Answer :- Edward syndrome

Author :- Anoop Singh Ranhotra on 09 August 2016.
Answer :- Hypothyroidism

1 2 3 
Advertisements by :    Septilin by Himalaya Mega-CV by Aristo
Disclaimer: The information given by www.pediatriconcall.com is provided by medical and paramedical & Health providers voluntarily for display & is meant only for informational purpose. The site does not guarantee the accuracy or authenticity of the information. Use of any information is solely at the user's own risk. The appearance of advertisement or product information in the various section in the website does not constitute an endorsement or approval by Pediatric Oncall of the quality or value of the said product or of claims made by its manufacturer.