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DECEMBER 1999 EDITION
PHOTOS
1. Name two complications of this condition.
2. Name three conditions which produce such a clinical picture in a 4 year old boy.
3. What two abnormal findings are seen in this ECG from a 6 year old girl? Diagnosis.
4. What is this investigation? What specific abnormality is seen?
5. Diagnosis.
6. This abnormality was bilateral. Name two specific investigations needed.
7. What is the diagnosis?
8. This 3 year old presented with severe pain and crying. Diagnosis.
9. This EEG was taken from a 14 year old boy with dementia. What classical abnormality is seen?
10. This is a renal ultraound scan of a 2 day old baby. What is the diagnosis?
1. Speech defects, recurrent middle ear infections. (Dental decay, mal-alignment of teeth)
This is a cleft lip (unsure about a cleft palate). Correction is usually done at 2-3 months for a lip and sometime before 1 year of age for a palate. Many syndromes including Trisomy 13, teratogens including phenytoin and busulfan etc. are implicated in many cases. It is otherwise a multi-factorial disorder.
2. Gaucher's disease, chronic Budd Chiari syndrome, Lymphomas. (Leukemias, mucopolysaccharidoses etc.)
Severe hepatomegaly of this nature is uncommon in childhood nowadays.
3. Short PR interval, delta waves. WPW syndrome.
4. This is a dynamic radio isotope scan (MAG3 or DTPA). (The kidney as well as the bladder is seen whereas in a DMSA scan only the kidneys are seen). This shows a unilateral kidney with absent activity on the other side.
5. Intussusception.
This is the classical "claw"sign on a barium enema where the leading edge of the intussusception is.
6. Serum cholesterol and triglycerides. (liver functions).
These are tendon xanthomas. The causes for this include a lipid disorder such as hypercholesterolemia, and liver failure as in primary biliary cirrhosis.
7. Neurofibromatosis Type I.
The diagnosis in children is made by the presence of two features out of the seven described. a. Cafe au lait macules >6, >1.5 cm (or 5 mm in younger children) b. Optic nerve gliomas c. Positive family history d. Axillary freckling e. Typical bony changes f. Lisch nodules in the iris and g. neurofibromas. Complications include hypertension, optic nerve gliomas and kyphoscoliosis (also renal hamartomas, hydrocephalus, pseudo-arthroses, glaucoma).
8. Torsion of the left testis.
The discoloration and typical symptoms are sufficient to make the diagnosis. Surgical exploration is essential to salvage the torted testis before it becomes gangrenous. Pre-operatively, Color Doppler ultrasound can be used to make a positive diagnosis of torsion.
9. Burst suppression.
This is an EEG from a child with SSPE.
10. Multicystic kidney.
© Copyright Ram's MRCP Teaching 1999
