50 Differential diagnosis of hepatosplenomegaky - read

Question 1

What are the different diseases causing hepatosplenomegaly in childhood

Answer 1

Gaucher disease: It is an autosomal recessive disease caused by a deficiency in βglucocerebrosidase that leads to intracellular accumulation of glucocerebroside in the brain, liver, spleen, and bone marrow.

Niemann-Pick type C: autosomal recessive disease- deficiency in sphingomyelinase that leads to progressive neurodegeneration due to intracellular accumulation of sphingomyelin

Neonatal hepatitis:

• Hemolytic diseases of the newborn

Question 2

Clinical features

Diagnostics

Treatment

For gaucher disease

Answer 2

All types
Hepatosplenomegaly
Bone: osteoporosis, avascular necrosis of the femur
Blood abnormalities: anemia, thrombocytopenia, pancytopenia
Pulmonary manifestations
Growth delays

Type I: non-neuronopathic Gaucher disease

Type II: acute neuronopathic Gaucher disease

Congenital dry scaly skin due to abnormal keratinisation acute neurodegeneration
Death within the first years of life

Type III: chronic neuronopathic Gaucher disease

Type III
Gradual onset of symptoms
Neurodegeneration

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beta-glucosidase leukocyte (BGL) test 

Gaucher cell: lipid-rich macrophages with an enlarged cytoplasm with inclusions that resemble crumpled tissue paper on microscopy

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Treatment: recombinant glucocerebrosidase

Question 3

Clinical features

Diagnostics

Treatment

For niemann pick type c disease

Answer 3

neurodegeneration
Cherry-red spot in the macula
Hepatosplenomegaly

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Light microscopy: lipid-laden macrophages (foam cells) in the bone marrow, spleen, and liver

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Type a no treatment

B - bone marrow transplant

miglustat, a drug also used for Gaucher disease, has been approved for patients with type C disease

Question 4

Etiology

Clinical features

Diagnostics

Treatment

For neonatal hepatitis

Answer 4

cytomegalovirus, rubella virus, hepatitis A and B viruses, herpes simplex viruses

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jaundice - at one to two months of age,
not gaining weight

Failure to thrive

Dark urine.

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liver biopsy

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Vitamin supplements

phenobarbital, a drug used to control seizures but which also stimulates the liver to excrete additional bile.

Formulas containing more easily digested fats

. Neonatal hepatitis caused by the hepatitis A virus usually resolves itself within six months

, but cases that are the result of infection with the hepatitis B or C viruses most likely will result in chronic liver disease. Infants who develop cirrhosis will ultimately need a liver transplant.

Question 5

Etiology

Clinical features

Diagnostics

Treatment

For HEMOLYTIC disease of newborn

Answer 5

Rh or ABO incompatibility between the mother and fetus.

CFs can be hydrops fetalis (prenatal),
neonatal anemia, hepatosplenomegaly, neonatal jaundice (present after birth or appears within 1st 24 hours of life) & hypoxia.

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Diagnosis is made with US (for hydrops fetalis) and coombs test (postnatally).

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Treatment is done prenatally with intrauterine blood transfusion and postnatally with phototherapy, exchange transfusions with RBCs and IV immunoglobulins

Question 6

Etiology

Clinical features

Diagnostics

Treatment

For Malaria

Answer 6

plasmodium parasites; Transmitted through the bite of an infected female anopheles mosquito

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  fever,  ,  
Hedache 
Vomiting 
Diaphoresis
hepatosplenomegaly,

Severe malaria caused by plasmodium falciparum

Manifestations
Kidneys: flank pain, oliguria, hemoglobinuria, acute kidney injury

Cerebral: hallucinations, confusion, impaired consciousness,
seizures, or even coma

Cardiopulmonary: heart failure, pulmonary edema, ARDS, shock

Hematologic: severe anemia, coagulation disorders

Metabolic: hypoglycemia, metabolic acidosis

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Diagnosis is by blood smear;
First thick and then thin

Treatment with antimalarial drugs (e.g. quinine)

Question 7

Etiology

Clinical features

Diagnostics

Treatment

For Kalazar - leishmaniasis

Answer 7

Leishmania donovani (protozoan) phlebotomine sandflies

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Cutaneous
reddish macules/papule

Visceral  
Many patients are asymptomatic.
Kala-azar (Hindi for “black fever,” in reference to the darkening of the skin it can cause) 
Usually insidious 
Flu-like symptoms,
 spiking fevers
Weight loss
Lymphadenopathy
Hepatosplenomegaly
Ascites and edema
Pancytopenia
Possible darkened or gray skin color (especially on the palms and soles)
Immunosuppression may lead to secondary bacterial infections in advanced disease 
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Diagnostics- visceral

Laboratory tests
Hemolytic anemia
Neutropenia, eosinopenia, thrombocytopenia

Detection of pathogen
Microscopy of tissue biopsy (e.g., bone marrow) with visualization of macrophages with amastigotes

PCR
Leishmaniasis

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Treatment
Amphotericin B