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| Case of the Week Thursday 26/9/2006 |
Presented by Dr. Mahmoud Abdo.
Glycogen Storage Disease
Click here to download a power point presentation for the case.
Staff round presentation Unit of Professor Dr. Afaf Farrag
Professor Dr. Magdy El Serafy.
Professor Dr. Yasser El Boraey.
Dr. Shereen Hunter.
Dr. Mohammad Mahmoud.
Dr. Hanan Abdel Hafez.
Dr. Yahia El Sharif.
Dr. Alaa Haseeb.
Dr. Mohammad El Said.
Resident:Hany Shehab.
Resident: Mahmoud Abdo.
Personal history
Basma Abdelfattah Mohammed.
14 years old.
Student (3 rd year prep.)
Born and living in Cairo .
No history of contact with canal water or receiving anti-schistosomal therapy.
Not menstruating yet.
Complaint
Right upper quadrant pain.
Present history
The condition started a long time ago with a gradual onset and progressive course of dull aching right upper quadrant pain of moderate severity.
That pain has no specific precipitating or relieving factors and no special radiation.
That pain was associated with fainting attacks.
These attacks are precipitated by physical and mental stress, last for few minutes and improve dramatically with sugary solutions.
These attacks are associated with marked sweating, palpitation and pallor.
Similar attacks awaken the patient from sleep and are prevented only by the intake of sweetened milk before sleeping .
There is history of muscle twitches.
These twitches were not related to the fainting attacks and had no specific precipitating or relieving factors.
There is history of neonatal convulsions for which the patient stayed and followed up in (Abo-Elriesh hospital) for a long duration but no specific diagnosis was reached (as reported by her father).
There is no bleeding tendency manifestations, jaundice or ascites.
No history of fever, skin rash, joint pain, perception of body swellings, oral ulcers or hair falling.
No symptoms suggestive of other system affection.
Past history
Not known to be diabetic or hypertensive.
No history of specific drug intake in the last 6 months.
No history of operations or blood transfusion.
Family history
The patient's parents are cousins.
The patient has two younger brothers suffering from similar problems.
General examination
The patient is fully conscious, of average intelligence and lying comfortably on bed.
Pulse: 90 bpm regular.
Blood pressure: 130/80 .
Temperature: afebrile all through the hospital stay.
No pallor, jaundice or cyanosis.
Thyroid and parotid glands are not enlarged.
No lymphadenopathy and neck veins are not congested.
Upper and lower limb examination are free.
Musculoskeletal, neurological and ophthalmological examination are free.
Cardiovascular and chest examination are free.
Abdominal examination
Inspection:
Subcostal angle: not widened.
Recti: not divaricated.
Umbilicus: normal site and shape and no impulse on cough.
No hernias, scars or abnormal pigmentation.
Palpation:
Liver:
* Upper border: 5 th space midclavicular line.
* Lower border:
Right lobe:10 cm below the costal margin in the
midclavicular line.
Left lobe: 20 cm below the xiphisternal junction.
* Surface: smooth.
* Consistency: firm.
* Edge: well-defined (rounded).
* Tenderness: not tender.
Spleen: not felt .
No ascites: detected clinically.
In summary
A 14-year-old female patient presenting with:
? Right upper quadrant pain.
? Fainting attacks and muscle twitches.
? Family history of positive consanguinity and similar condition in her brothers.
? Marked hepatomegaly.
urinalysis
Normal
C.B.C
W.B.Cs: 6400 /ul
B: 0%
E: 1%
Staff: 5%
Seg: 56%
Lymph: 38%
HGB: 11.8 g/dl
HCT : 36.3 %
MCV: 84.7 fL
MCH: 27.6 pg
MCHC: 32.5 g/dl
Platelets: 174,000 /uL
E.S.R
First hour:
12
Second hour:
30
Liver biochemical profile
Bilirubin: - total : 0.47 mg/dl (0.1-1)
- direct:0.10 mg/dl (0.0-0.3)
AST: 98 U/L (0-37)
ALT: 95 U/L (0-32)
ALP: 405 U/L (35-104)
Total proteins: 6.9 g/dl (6.4-8.3)
Albumin: 3.6 g/dl (3.4-5.2)
Abdominal ultra-sound
Liver:
Enlarged in size, the right lobe span measures 16.6 cm in the right midclavicular line and the left lobe span measures 16 cm in the midline.The left lobe could also be seen as far as the left anterior axillary line when the left hypochondrial region was scanned.
The echopattern is mildly coarse. The surface is finely wavy. Hepatic veins are mildly attenuated. No focal lesions or IHBRs dilatation. P.V is not dilated.
Gall bladder: is of average size and wall thickness. No stones or mud inside. C.B.D is not dilated.
Spleen: is of average size (11 cm) and homogenous echopattern.
Kidneys: both are normal .
Pancreas and midline structures: free.
No ascites.
Conclusion:
hepatomegaly with features of cirrhosis.
Hepatitis markers
Anti-HCV antibodies: Negative.
HBsAg: Negative.
Anti-HBs antibodies: Negative.
Anti-HBc (total, IgM): Negative.
Anti-HAV (IgM): Negative.
Auto-immune profile
ANA, ASMA, Anti-LKM1 antibodies, AMA:
NEGATIVE
Lipid profile
Triglycerides: 147 mg/dl (0 – 149)
Cholesterol: 211 mg/dl (50 – 200)
HDL: 42 mg/dl (40 – 75)
LDL C: 140 mg/dl (100 – 130)
A1AT: 110 mg/dl (90 – 200)
Ceruloplasmin: 24.7mg/dl (20 – 60)
Iron: 94 µg/dl (37-145)
TIBC: 594 µg/dl (274-385)
Kidney function, urea, electrolytes and
blood sugar:
Within normal range.
Liver biopsy
Gross picture:
tiny greyish white core of tissue 0.5 cm long submitted.
Microscopic picture:
examination of the specimen received revealed fragmented core of a cirrhotic liver showing marked ballooning, pseudorosetting, moderate number of glycogen nuclei, marked fibrosis of portal areas with no significant inflammatory reaction or necro-inflammatory lesions.
Diagnosis:
End stage cirrhotic liver, metabolic disorder,
GLYCOGEN STORAGE DISEASE.
Thank you
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