Hashibur rahma, 14 years of age of consanguineous parents from Bandar, Chittagong presented with progressive difficulty to walk, to work with hands and in speech.
Birth history is normal and there is no developmental delay.
On examination, the patient is alert, a bit emotionally labile, muscle bulk is reduced in generalized form; rigidity of muscles increased, power is reduced, reflexes are exaggerated, more on the right side. Among the involuntary movements tremor of the hand and feet is present, coarse and also of intention tremor in type. Coordination is normal. Gait though not typically fastinant, but on small base.There is no hepatomegaly.
Eye Examination on slit lamp shows Kayser Flesher Ring.
In investigation: Serum cerulloplasmin is 150 ugm, Serum copper and urinary copper couldn’t be done, CBC is normal with Hb-11.2 gm/dl, ESR -10, TC-7300, DC-N-67, L-28, E-3, B-0, Urine R/E N, Serum creatiniine- 0.7 mg/dl. CT scan reveals Normal.
The case is diagnosed as Wilson Disease – Neurological type.
The patient was treated with Pallicillamine, Xinc and Perkinil
badrud doza
Link:
Wilson Disease: Wikipedia
Sunday, August 1, 2010
A boy of 14 with Wilson Disease
Friday, April 9, 2010
Case: A Posterior Fossa Tumor- ?Cellebellar Astrocytoma
Farzana, a girt 7 years of old of nonconguinous parents from Hathajari, Chiitagong presented with vomiting for 2 months with morning headache, dimness of vision and irritability for 1 month.
On examination , the patient was found irritated , OFC 54 cm, Pulse –rapid, BP –120/80 mmhg, Ant Fontanelle –open (small),pupil dilated and poorly reacting, no neck rigidity or Kerning sign and planter extensor,muscle power –poor, sensory- intact.
CT scan reports Posterior Fossa Tumor likely Astrcytoma with grossly dilated ventricles. 
Pt was referred to the Neurosurgey Center for operation and further management.
Sunday, March 7, 2010
Friday, October 23, 2009
"This is International Infection Prevention Week
This is International Infection Prevention Week. Burbara Dunn has informed that Kimberly-Clark HeathCare is in the forefront of protecting patients from Heath care associated infection (HCAI) and has put together a campaign dedicated to that prevention called HAI Watch- 'Not on my watch'.
They have created a site that information for both healthcare professionals and healthcare consumers.
Following is the website:
http://haiwatchnews.com
badrud doza
Wednesday, May 6, 2009
Case: A girl with hydrophobia
A 2 year old girl presented with agitation, hydrophobia and airophobia to a public hospital in our locality. Our post graduate students on their weekly scheduled visit to the hospital witnessed the child. The child or parents couldn't recollect any incident of dog bite or any other bite to the child.
The patient has no fever or no other neurological sign. The typical presence of hydrophobia and airophobia indicates the development of Rabies in the child. She was refered to the Infectious Disease Hospital for quarantine and treatment.
badrud doza
Link:
Rabies:CDC
Rabies: Wikipedia
World Rabies Day
Saturday, March 7, 2009
Case: Mucopolysaccharidosis with cardiomyopathy and repeated respiratory infections
A boy of 5 years of consanguinous parents from Chittagong presented with dysmorphic facies, gross developmental delay, growth failure, deformity of the limbs and repeated respiratory infections.
He has cardiomegaly and initially had murmers which later disappeared and has moderate hepatospenomegaly, kyphoscoliosis.Visoin and hearing not impaired.
His blood picure is normal. Radiology shows cardiomegaly,spatula shaped ribs and diaphysial broadening of the long bones.
Echo showed on 27/8/06 AV canal defect(partial), cleft AML and grade II MR. Later on 3/10/07 it shows normal finding.
Enzyme assay is not available in Bagladesh and patient could not afford to go abroad for further evaluation and better managment.
Patient is diagnosed as Mucopolysaccharidosis likely Hurler's syndrome.
Patient is on symptomatic treatment.
badrud doza
Link:
Wikipedia- Mucopolysaccharidosis
E-medicine - Mucopolysaccharidosis Type I/H
Sunday, February 15, 2009
Case: Thalassemia with severe anaemia with pericardial effusion
I was called in a clinic to see a girl of 5 years of consanguinous parents of Rohingya origin,the family staying in a Refugee camp in Tekhnaf, waiting for migration to Ireland.
The patient has growth failure(wt 10 kg),severe pallor, mild respiratory distress, malar prominence, huge hepatospenomegaly and intermittant fever of 22 days with no history of contact with tuberculosis. Clinically she also seems to have cardiomegaly, a soft systolic murmer, no basal creps and the liver was not tender.
Her investigation shows Hb-2.7 gm/dl, ESR-60, TC,DC-normal range. TT, Urine R/E is noram. Hb electrophoresis shows Hb-E Beta Thalassemia disease. X-ray has huge cardiomegaly-pear shaped with oligamic lung field, Echo shows gross pericardial effusion.
She was given two unit of blood, antibiotic and oral steroid. Fever was subsided after 7 days of traatment,Hb eleveated and respiratory distress subsided.
For pericardiocentesis and further evaluation he was refered to a cardiac centre. The delay takes place because of beaucratic complicacy of the sponsoring agencies.
badrud doza
Post script: The patient was untimately given antitubercular drug.
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