Case: Hepatomegaly with seizures and hepatitis in a family Presenter: Rajesh Kumar Meena Moderator: Vidyut Bhatia Panelists: Seema Alam, Alka Jadhav, Anshu Srivastava

1. Hepatomegaly with seizures and
hepatitis in a family
Presenter: Dr.Rajesh Kumar Meena
Fellow - Pediatric gastroenterology and Hepatology
Moderator: Dr.Vidyut Bhatia
Consultant, Pediatric gastroenterologist and Hepatologist
Indraprastha Apollo Hospitals
New Delhi

2. S, 7 years/Female R/O Afghanistan
Progressive abdominal distension since 10 months age
Seizures Started at 1 year
Late night, 3-4 episodes
Seizure free for 5 years
Delayed gross motor milestones H/O delayed walking
Night blindness 2 years

3. A, 5 year/Male
Progressive abdominal distension since 7 months age
Seizures Started at 10 months age
Late night, 5-6 episodes in total
Started on valproate
Delayed gross motor milestones

4. Family History
Second degree
consanguineous
marriage
Three siblings affected
Youngest sibling
asymptomatic
History of seizures in two
expired siblings
2 day 1 year
7yr
5yr10yrs 1 year

5. Examination
Findings S A
Weight 22 kg (50th centile) 13.3kg (< 3rd
centile)
Height 115 cm (10th centile) 90cm (<3rd centile)
BMI 75th centile 75th centile
Pallor - -
Icterus - -
Rickets + -
Vitamin A deficiency
(Bitot spots)
+ +
Doll like facies (round face,
prominent chubby cheeks)
+ +

7. Examination
Findings S A
Hepatomegaly 7cm BCM (12cm span,
smooth surface, firm)
6cm BCM (11cm span,
smooth surface, firm)
Splenomegaly 5 cm 2 cm
CVS Normal Normal
CNS Tone N
DTR N
Proximal muscle
weakness +
Tone N
DTR N
Proximal muscle
weakness +

8. Summary
Two siblings from Second degree consanguineous
marriage
Abdominal distension with recurrent late night seizures
Gross motor developmental delay, rest domains-normal
Signs of multivitamin deficiency
Doll like facies with Short stature
Hepatosplenomegaly
Proximal muscle weakness

9. Differential diagnosis
Glycogen storage disease
Mucopolysaccharidosis
Lipidosis- Gaucher disease Type I
Neimann Pick disease type B
GM1 gangliosidosis
Mitochondrial myopathies

10. S A
Hb (gm%) 12.6 13
TLC 2800 (P 65) 16600 (P 60)
Platelet 98000 4.91
T.Bil/D.bil 1.1/0.4 0.4/0.2
SGOT (<40 IU/L) 661 3030
SGPT (<40 IU/L) 203 992
ALP 596 496
Albumin 4.2 4.5
T.Cholesterol (mg%) 123 (5th centile) 168 (75th centile)
Triglycerides (mg%) 104 (90th centile) 140 (>95th centile)
Investigations

11. S A
CPK T/MB 435 (25-200)/ 46 (<25) 300/40
RBS 75mg% 80mg%
Uric acid 8 6.5
Lactate 3.6 2.8
Fasting ketones ++ ++
Urine R/M Normal Normal
Echo Hyper-contractile LV
EF-65%
Normal study
EF-60%
Viral markers Nonreactive Nonreactive

12. Usg abdomen:
enlarged liver with coarsened echotexture
multiple cirrhotic nodules
splenomegaly with portal hypertension
UGI endoscopy: grade II-III esophageal varices

13. Hepatocytes laden with glycogen on treatment with PAS

14. PAS staining for glycogen abolished on prior treatment with diastase

15. Enlarged swollen hepatocytes encircled by thick fibrous septae

16. Underwent LR liver transplant
Discharged within 3 weeks after surgery,
on immunosuppressant therapy
Explanted liver showed
S - Mixed nodular cirrhosis
A – Cirrhosis in the background of GSD
Eldest male sibling is still waiting for transplant in view of the
non-availability of the donor

17. S A
Pre-transplant Post-
transplant
Pre-transplant Post-
transplant
Hb (gm%) 12.6 11 13 10.3
TLC 2800 14400 16600 15600
Platelet 98000 4.98 lac 4.91 lac 6.40 lac
T.Bil/D.bil 1.1/0.4 0.4/0.2 0.4/0.2 1.4/0.6
SGOT 661 55 3030 60
SGPT 203 45 992 47
ALP 596 337 496 182

18. Type
Findings
Type I (Von
Gierke
disease)
Type III
(Forbe
/Cori)
Type IV
(Anderson)
Type VI
(Hers)
Type
IX
Type
XI
Hypoglycemia + + + ± ± ±
Doll like facies + +
Bleeding/easy bruising +
Growth retardation + + + + + +
Hepatomegaly + + + + + +
Muscle weakness + ++ (NM form)
Hypertriglyceridemia + + ±
Hyperlipidemia + + ±
Ketosis + ± ±
Raised Transaminase ± ++ + ±
Lactic acidosis +
Hyperuricemia/gout +
Cirrhosis + ++
Renal involvement + +

19. Treatment
No specific therapy
Primarily dietary, aimed at maintaining normoglycemia
Frequent meals high in complex carbohydrates,
Hydrolysable cornstarch between meals and overnight
± gastric tube feedings
If myopathy present, frequent high-protein meals as
gluconeogenesis preserved

20. Drug therapy
Antibiotics: Type I b
Allopurinol: reduce uric acid, prevent occurrence of
gout, kidney stones
HMG-CoA reductase inhibitors: Hyperlipidemia (>12
years)
ACE inhibitor: renal involvement with microalbuminuria
Citrate supplements: prevent nephrocalcinosis, renal
calculi, if hypocitraturia present

21. Liver transplantation should be considered
Refractory to medical management
End stage liver disease
Multiple liver adenomas
Liver malignancy
Type IV - classical and progressive hepatic
form

22. Liver transplantation - No role
GSD Ia with end stage renal disease
GSD IIIa, without substantial cirrhosis or HCC
GSD IV severe neuromuscular form