C1329821

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Based on the provided clinical details, the  girl presents with features suggestive of a suspected metabolic disorder. The key findings include:

• Faltering growth + vomiting

• Hepatomegaly & raised liver enzymes (ALT 254, GGT 519, increased bile acids)

• High cholesterol & high bile acids

• Ketotic hypoglycemia (glucose 1.7)

• High lactate (5.7)

• Multiple gallstones

• Doll-like facies

The differential diagnosis (DDx) includes:

1. Inborn Errors of Metabolism (IEM):

• Glycogen Storage Disorders (GSD):

  • GSD Type I (Von Gierke’s Disease) – Hypoglycemia, hepatomegaly, high lactate, high triglycerides, doll-like facies.

  • GSD Type III (Cori’s/Forbes Disease) – Hypoglycemia, hepatomegaly, abnormal liver enzymes.

• Mitochondrial Disorders:

  • Mitochondrial hepatopathy – Lactic acidosis, hypoglycemia, liver dysfunction.

  • Mitochondrial DNA depletion syndrome (MDS)

• Galactosemia:

  • Suspected due to pending Gal-1-PUT testing

  • Presents with hepatomegaly, hypoglycemia, vomiting, and jaundice.

• Disorders of Bile Acid Synthesis:

  • Progressive familial intrahepatic cholestasis (PFIC) – Hepatomegaly, cholestasis, raised bile acids.

2. Metabolic Cholestatic Liver Diseases:

• Alpha-1 Antitrypsin Deficiency (pending Pi typing)

• Cholestatic Liver Disease secondary to metabolic syndrome

3. Endocrine Disorders:

• Adrenal Insufficiency:

  • Cortisol levels pending; adrenal dysfunction can cause vomiting, hypoglycemia.

4. Other Considerations:

• Storage Disorders: Lysosomal storage diseases (e.g., Niemann-Pick, Gaucher)

• Congenital Disorders of Glycosylation

Next Steps:

• Await whole-genome sequencing (R14)

• Further metabolic screening (Urine GAGs, amino acids, liver autoantibodies, copper studies)

• Genetic testing (GSD, mitochondrial, bile acid disorders)

This case likely represents a metabolic hepatopathy with features pointing towards GSD, mitochondrial, or bile acid disorders. Let me know if you need more details on specific differentials!

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How does the Ghost Project find new investigations?

Ron: We’re often contacted through referrals, our website, and

the Ghost Line (as we refer to the phone number for the New

GhostChronicles.indd 21 7/8/09 8:56:37 AM

xxii The Ghost Chronicles

England Ghost Project). Ninety percent of our cases are those in

which people are looking for verification that they aren’t crazy.

They just want to know if they have ghosts or not. Sometimes

we’re contacted by the media, who want to see what we do.

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