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Hepatomegalia - Pediatria 1975 PDF
Hepatomegalia - Pediatria 1975 PDF
Hepatomegaly
An Approach to Differential Diagnosis
Supported in part from NIH Grants (AM-16269 and GM-21700) and a V.S. Army Research
and Development Contract (DADA-17-70-C-0113). Dr. Walker is a recipient of an Aca-
demic Career Development Award (K04-AM00021), from the NIAMDD. Dr. Mathis is a
recipient of a Clinical Investigator Award (K08-AM000136) from the NIAMDD.
Pediatric Clinics of North America- Vol. 22, No.4, November 1975 929
930 W. ALLAN WALKER AND RICHARD K. MATHIS
MECHANISM(S) CONDITION
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BODY WEIGHT (Kg.) AGE (yr5)
Figure 1. Liver span (estimates of height in the right midclavicular line) in normal male
and female children was obtained by palpating the lower border and percussing the upper
border. The closed circles (e) represent values for females and crosses (+) values for males.
Each mark is a mean of the measurements obtained by two investigators. Liver span is
plotted against body weight (left) and against age (right). The middle lines are the regression
lines, and the outer lines represent the 95 per cent confidence limits. The slopes of the lines
were significantly different from zero (p<O.Ol). (From Younoszai, M. K. and Mueller, S.:
Clinical assessment of liver size in normal children. Clin. Pediat., 14:378-380, 1975, repro-
duced with permission.)
SIGN CONDITION
Skin
Carotenemia Hypervitaminosis A
Erythema nodosum Hepatitis with inflammatory bowel disease or
tuberculosis
Telangiectasia Hereditary hemorrhagic telangiectasia
Hemangiomas Multinodular hemangiomatosis of liver
Scratch marks Biliary obstruction
Eczematoid rash Histiocytosis
Head
Microcephaly Congenital rubella, toxoplasmosis, or cytomegalovirus
infection
Hydrocephalus Congenital syphilis
Craniotabes Hypervitaminosis A
Eyes
. Telangiectasia Hereditary hemorrhagic telangiectasia
Iritis Hepatitis with inflammatory bowel disease
Kayser-Fleisher rings Wilson's disease
Cataracts Wilson's disease
Galactosemia
Papilledema Hypervitaminosis A
Mouth
Gingival inflammation Malnutrition
Wilson's disease
Glossitis Hepatitis with regional enteritis
Cirrhosis of any cause
Chest
Abnormal breath sounds Cystic fibrosis
Tuberculosis
Abdomen
Enlarged cystic kidneys Congenital hepatic fibrosis-polycystic kidney disease
Genitalia
Testicular abnormalities Cystic fibrosis
Histiocytosis
Joints
Arthritis Hepatitis with inflammatory bowel disease or
juvenile rheumatoid arthritis
Neurologic exam
Tremors, dystonia, dysarthria Wilson's disease, lipid storage diseases
936 W. ALLAN WALKER AND RICHARD K. MATHIS
Newborn
Intrauterine and intrapartum acquired infection
Erythroblastosis fetalis
Biliary tract obstruction
Neonatal hepatitis
Congestive heart failure
Viral hepatitis
Infection, septicemia
Infant
Cystic fibrosis
Metabolic
glycogen storage
galactosemia
Gaucher's disease
alpha-l antitrypsin
mucopolysaccharidosis
Wolman's disease
Histiocytosis syndromes
Malnutrition
Tumors
intrinsic (hepatoblastoma multinodular hemangioendothelioma)
metastatic (neuroblastoma, Wilm's tumor, gonadal)
Young child
Toxic and drug reaction
Parasitic (visceral larval migrans)
Leukemia
DIAGNOSTIC AIDS
Laboratory Investigations
When a careful clinical evaluation of the patient with hepatomegaly
suggests hospitalization and further investigation, laboratory techniques
can give the physician valuable information about the major mechanisms
responsible for the hepatomegaly and the extent of disease. Again a
comprehensive review of this area is beyond the scope of this article.
However, a suggested approach to laboratory evaluation is provided in
Table 4. Only those special techniques used to evaluate hepatomegaly
will be discussed in detail.
Inflammatory diseases resulting in hepatocyte necrosis produce dra-
matic deviations of serum transaminases (SGOT and SGPT) usually
proportional to the extent of damage. Further necrosis impairs synthesis
of proteins involved in coagulation and may alter the prothrombin time
and reduce ammonia clearance. Hepatomegaly due to other mecha-
nisms such as storage (eg., iron43 and copper9) or congestion may affect
hepatocellular functions. Late stage liver disease may occur with nor-
mal serum enzymes but abnormal serum albumin and clotting studies.
Isotopic Scanning Procedures
The use of radiolabeled substances injected intravenously has
helped considerably in the evaluation of hepatomegaly, particularly in
the diagnosis of space occupying conditions affecting the liver. In gener-
al, two types of scans are used. Kupffer cell distribution and function are
evaluated by the technetium-99m sulfur colloid scan. 19 ,36 Defects in the
uniformity of colloid uptake by reticuloendothelial tissue may expose
extensive parenchymal disease or delineate mass lesions. Relative up-
take of colloid by the liver normally is slightly greater than splenic up-
take, and an altered uptake ratio is an indication of altered reticuloen-
dothelial function. When inflammation, massive necrosis, or Kupffer
cell hyperplasia are considered as part of the differential diagnosis, this
scanning procedure should be used. Alternatively, evaluation of biliary
obstruction and hepatocellular disease encountered in infants and chil-
dren ultimately relies on studies with 131 1 or 1251-labeled rose-bengal
HEPATOMEGALY 939
Table 4. Diagnostic Aids in Hepatomegaly
Laboratory Studies
General: Complete blood count, sedimentation rate, reticulocyte and platelet counts,
protein electrophoresis
Liver function tests: Bilirubin (direct and indirect), SGOT, SGPT, alkaline phosphatase,
BSP excretion, ammonia
Serum proteins: Ceruloplasmin, alpha-antitrypsin
Clotting studies: Prothrombin time, partial thromboplastin time
Scanning Procedures
Technetium-99m sulfur colloid: Kupffer cell function
131 I-rose bengal: Hepatocyte function
Ultrasonic scanning: Mass lesion (cystic vs. solid)
Selective Angiography
Mass lesion (benign vs. malignant)
Special Procedures
Bile salt distribution in serum and urine
Cholangiography (percutaneous): Okuda needle
131I-rose bengal in stool collection
Sweat test
Hepatitis B antigen and antibody
Upper gastrointestinal barium x-rays
tions, the closed liver biopsy in the pediatric age group, employing the
Menghini or Klatskin needle and the procedure of the Hong and Schu-
bert,t6 is generally recognized as a safe diagnostic procedure. 49 It is the
least invasive method for obtaining a tissue diagnosis in patients with
hepatomegaly; yet its use should be considered carefully in each indi-
vidual.
Comprehensive analysis of the biopsy specimen may include en-
zyme or heavy metal assay, isolation of an infectious agent, special
fluorescent or histochemical procedures, and/or fine structure analysis
of organelle pathology with electron microscopy. Although the closed
biopsy is most valuable in generalized hepatomegaly, the procedure
should also be considered in selected patients with asymmetrically
enlarged livers. However, the biopsy should be done only after a special
procedure such as a scan or angiography has helped to localize the
lesion. Under no circumstances should a closed biopsy be done when a
hemangiomatous or septic lesion is suspected. Furthermore, to mini-
mize complications, the closed biopsy should only be done after coagula-
tion studies are available or after any coagulation defect has been cor-
rected. In situations in which surgery is probable or a closed biopsy may
be too dangerous (hemangiomatosis), an open biopsy may be more ap-
propriate. This decision is based on an individual evaluation of each case.
Additional Diagnostic Tests
In addition to those special diagnostic procedures discussed above,
many new laboratory18 and x-ray studies 7• 27 have been described that may
be of particular importance in establishing the diagnosis of specific types
of hepatomegaly. Many of these procedures are included in Table 4. Okuda
and coworkers27 have introduced a special needle that may be used for
transhepatic cholangiography using a nonsurgical percutaneous method.
This technique may be very important in the diagnosis of hepatic dis-
orders in critically ill infants and in patients with suspected obstructive
jaundice.
"BENIGN" HEPATOMEGALY
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