| Some Stuff |
|
| Some MORE Stuff |
|
|
| Whipple's disease |
A malabsorption disorder. Characteristics - diarrhea, steatorrhea, skin pigmentation, arthralgia, arthritis, lymphadenopathy, and central nervous system lesions. Usual course - progressive; curative with treatment.
CAUSES: •probable bacterial infection
DIAGNOSIS: The diagnosis is suspected when large aggregates of PAS-positive , bacteria-containing macrophages are seen in the small intestine and/or other affected organs. Granulomas may also be seen. The bacteria exhibit an unusual trilaminar cell wall ultrastructure by electron microscopy. Diagnosis is established by polymerase chain reaction amplification of the 16S rRNA gene sequences of these bacteria in tissue. The organism has been isolated in tissue culture. There is evidence indicating that Tropheryma whippelii is a ubiquitous environmental or commensal organism causing Whipple's disease in a small subset of individuals. Macrophage dysfunction appears to be a prerequisite for the development of Whipple's disease.
TREATMENT
• penicillin G´ • ampicillin´ • tetracycline´ • corticosteroids, e.g. ´prednisone´
SYNONYMS: •lipophagic intestinal granulomatosis •intestinal lipodystrophy •secondary nontropical sprue
ICD-9-CM: 040.2 Whipple's disease
|
|
|
|
| Williams syndrome |
Williams syndrome is an unusual multisystem neurodevelopmental disorder typified by characteristic craniofacial features, mild microcephaly, mild to moderate mental retardation with a distinctive cognitive-behavioral profile, connective tissue abnormalities, growth retardation, supravalvular aortic stenosis, peripheral pulmonary stenosis, renal artery stenosis, limited joint movement and transient hypercalcemia. Its occurrence is sporadic, although familial autosomal dominant cases have been infrequently reported.
The pattern of occurrence is nearly always sporadic and observed in both sexes, although there are several reported cases of familial transmission as an autosomal dominant mutation. The phenotypic expression is somewhat varied and associated with a hemizygous microdeletion of 114-250 kb in the 7q11.23 region which includes the elastin (ELN) and LIM-kinase (LIMK) gene.
SIGNS AND SYMPTOMS:
•The signs and symptoms observed in the classic case of WS may be diagnostic but the clinical presentation is somewhat varied
•Early childhood: Global developmental delay albeit with seemingly normal speech and expressive language
•Hyperacusis
•Characteristic craniofacial features
•Elfin-like facial appearance
•Medial eyebrow flare and stellate irises
•Wide mouth
•Long flat philtrum
•Upturned nose with a flat nasal bridge
•Dental anomalies
•Mild microcephaly
•Characteristic clinical features
•Supravalvar aortic stenosis
•Peripheral pulmonary stenosis
•Renal artery stenosis
•Infantile hypercalcemia
•Growth retardation and short stature
•Slender limbs and trunk
•Characteristic cognitive/behavioral features
•Weakness in abstract/visual reasoning
•Highly developed expressive language skills
•Low levels of daily living skills
•Postpubertal males and females
•Characteristic clinical features
•Hypertension
•Lordosis and/or limited joint movement
•Characteristic behavioral features
•Anxiety
•Depression and suicidal ideation
CAUSES:
Microdeletion in the 7q11.23 region
Laboratory Diagnosis:
Molecular-genetic (DNA) evaluation is the diagnostic test of choice and can determine the size of the deletion
SPECIAL TESTS:
Affected individuals require cognitive, behavioral, psychological and educational evaluations to develop individual education programs
TREATMENT
APPROPRIATE HEALTH CARE:
Affected individuals will generally need life-long adult supervision. Early intensive educational intervention and behavior modification should be implemented.
GENERAL MEASURES:
•Early detection will permit early intervention and intensive behavioral training
•Treatment for hypercalcemia by controlling dietary intake of calcium and vitamin D
•Ophthalmological evaluations are recommended for visual acuity
•Preventive dentistry to reduce risk of malocclusion
•Continual monitoring of cardiovascular anomalies and for hypertension
•Filtered ear protection for hyperacusis
SURGICAL MEASURES:
Treatment for aortic, pulmonary or renal artery stenoses if needed
DIET:
For hypercalcemia, control intake of calcium and vitamin D
MEDICATIONS
DRUG(S) OF CHOICE:
Medication for hypertension and for hyperparathyroidism.
PREVENTION/AVOIDANCE:
Genetic counseling and evaluation, especially among high-functioning patients, about pregnancies. Prenatal diagnosis is available.
POSSIBLE COMPLICATIONS:
•Learning problems, especially in abstract/visual reasoning
•Behavioral problems concerning indifference to personal safety
•Post-pubescent anxiety and depression
•Risk of cardiovascular disease and/or renal dysfunction
MISCELLANEOUS
ASSOCIATED CONDITIONS:
•Developmental delay
•Growth retardation
•Cardiovascular dysfunction
•Renal dysfunction
•Attention deficit disorder (ADD)
•Frequently associated with neuropsychological dysfunction
•Treatment for ADD is similar to methods used in the general population
PREGNANCY:
Patient and family should receive genetic evaluation and counseling as prenatal diagnosis is available
SYNONYMS:
•Williams-Beuren syndrome
•Fanconi type idiopathic infantile hypercalcemia
•Elfin facies syndrome
REFERENCES
•Anderson PE, Rourke BP: Williams Syndrome. In: White BP (ed): Syndrome of Nonverbal Learning Disabilities. New York, Guilford Press, 1995
•Bellugi U, Wang PP, Jernigan TL: Williams Syndrome: An Unusual Neuropsychological Profile. In Broman SH, Grafman J (eds.) Atypical Cognitive Deficits in Developmental Disorders: Implication for Brain Function. Hillsdale NJ, Lawrence Earlbaum Associates, 1994 |
|
|
|
| Wilms' tumor |
An embryonal renal neoplasm containing blastema, stromal or epithelial cell types usually affecting children before the 5th year.Several congenital anomalies are known to be associated with Wilms' tumor. A two stage mutational model has been proposed: occurrence in either hereditary form or sporadic form. Patients with aniridia have a deletion of the short arm of chromosome 11 (11p13).
SIGNS AND SYMPTOMS:
•Usually asymptomatic
•Palpable upper abdominal mass
•Abdominal pain
•Fever
•Anemia
•Rarely, signs of acute abdomen with free intraperitoneal rupture
•Cardiac murmur
•Hepatosplenomegaly
•Ascites
•Prominent abdominal wall veins
•Varicocele
•Gonadal metastases
CAUSES:
•Hereditary or sporadic forms of genetic mutation
•Familial form: autosomal dominant trait with incomplete penetrance (1%)
•Potential of paternal occupational exposure (machinists, welders, motor vehicle mechanics, auto body repairmen)
RISK FACTORS:
•Aniridia (600 times greater than normal risk)
•Hemihypertrophy (100 times greater than normal risk)
•Cryptorchidism
•Hypospadias
•Duplicated renal collecting systems
•Wiedemann-Beckwith syndrome
•Drash's syndrome
•Klippel-Trenaunay syndrome
•Familial occurrence
•Paternal occupation (see Causes)
DIAGNOSIS
DIFFERENTIAL DIAGNOSIS:
•Neuroblastoma
•Hepatic tumors
•Sarcoma
•Rhabdoid tumors
LABORATORY:
•Urinalysis (occasional hematuria)
•CBC (anemia)
•LDH
•Plasma renin (rarely helpful)
•Urine catecholamines
PATHOLOGICAL FINDINGS:
•Favorable findings (mortality of 7%)
•Bulky lesion, well-encapsulated
•Focal areas of hemorrhage and necrosis
•Absence of anaplasia and sarcomatous cell types
•Presence of blastema, stomal and epithelial elements
•Unfavorable histology (mortality rate of 57%)
•Anaplasia - markedly enlarged and multipolar mitotic figures 3-fold enlargement of nuclei in comparison with adjacent similar nuclei, hyperchromasia of enlarge nuclei. Anaplasia may be diffuse or focal.
•Sarcomatous changes - are now considered to be separate from Wilms, not subtypes. (Mortality of 64%)
•Nephroblastomatosis
•Considered premalignant
IMAGING:
•Chest x-ray
•KUB (presence of linear calcifications)
•Abdominal ultrasound - gives best information about tumor extension into IVC
•CT (with IV and oral contrast) of chest and abdomen
•IVP rarely helpful
DIAGNOSTIC PROCEDURES:
Occasionally bone marrow aspiration necessary to distinguish from neuroblastoma
TREATMENT
APPROPRIATE HEALTH CARE:
•In-patient work-up and treatment until stable postoperative and induction chemotherapy completed
GENERAL MEASURES:
•Chemotherapy
•Radiation therapy in Stage II, unfavorable histology, Stage II and Stage IV
SURGICAL MEASURES:
•Examination (visual and manual) of contralateral kidney
•Radical nephroureterectomy and biopsies as needed to provide precise staging information
•Sampling of any enlarged lymph nodes
•Identification of any retained tumor with titanium clips.
•Tumor should be given to pathologist fresh, not on formalin
•Vertical midline incision if tumor extension to right atrium present (possible use of cardiopulmonary bypass)
•With bilateral Wilms' tumors, biopsy, then chemotherapy and 2nd look operation 6 weeks to 6 month later for partial bilateral nephrectomy if possible
PATIENT EDUCATION:
•Patient and family teaching regarding long-term outlook
•Possibility of second malignancy
•Side effects of chemotherapy, radiation therapy
MEDICATIONS
DRUG(S) OF CHOICE:
•Dactinomycin (actinomycin-D)
•Vincristine
•Doxorubicin
•Cyclophosphamide (Cytoxan)
Contraindications: Refer to manufacturer's literature
Precautions: Refer to manufacturer's literature
Significant possible interactions: Refer to manufacturer's literature
ALTERNATIVE DRUGS:
•Doxorubicin (Adriamycin)
•Cyclophosphamide
FOLLOW UP
PATIENT MONITORING:
•Multidrug chemotherapy every 3-4 weeks for 16 weeks - 15 months depending on stage
•Every 4 months for 1 year, every 6 months for 2nd - 3rd year, yearly after that
•CBC, CT chest and abdomen with each visit
POSSIBLE COMPLICATIONS:
•1-2% will develop second malignant neoplasms (leukemia, lymphoma, hepatocellular carcinoma, soft tissue sarcoma)
•High risk of low birth weight infants, perinatal mortality in offspring of female survivors of Wilms' tumor
•Chest is usual site of recurrence
EXPECTED COURSE AND PROGNOSIS:
•With favorable histology, 91% survival
•With diffuse anaplasia, 20% survival
•With focal anaplasia, 64% survival
•With rhabdoid features, 19% 3 year survival
•Staging
•I - tumor limited to kidney, completely excised
•II - Tumor extends beyond kidney, completely excised
•III - Residual non-hematogenous tumor confined to abdomen (lymph nodes positive, spillage of tumor, peritoneal implants, extension beyond resection region)
•IV - Hematogenous metastases
•V - Bilateral renal involvement
REFERENCES
•Ashcraft KW, Holder TM: Pediatric Surgery. 2nd Ed. Philadelphia, W.B. Saunders Co., 1993
•Shochat SJ: Wilms' Tumor: Diagnosis and Treatment in the 1990's. Seminars in Pediatric Surgery 1993;2(1):59-68
•O'Neill JA, Rowe MI, Grosfeld JL, et al: Pediatric Surgery. 5th ed., St Louis, Mosby, 1998 |
|
|
|
|
|
