PATHOLOGY TEACH AND TELL: NEONATAL HEMOCHROMATOSIS WITH MASSIVE HEPATIC NECROSIS

Neonatal hemochromatosis (NH) is an uncommon disorder clinicopathologically defined by severe liver disease of intrauterine onset associated with extrahepatic siderosis that spares reticuloendothelial elements. NH phenotypically is a similar disorder to hereditary hemochromatosis. However, its extremely early onset of liver failure makes it notably unique. Massive liver necrosis in the newborn is a rare occurrence, but whenever present hemochromatosis should be considered in the differential diagnosis. Herein, we report a case of neonatal hemochromatosis that had massive hepatic necrosis with sparing only little parenchyma. The outcome was fatal within the first month of life.     

PATHOLOGY TEACH AND TELL: CENTRAL NERVOUS SYSTEM ATYPICAL TERATOID/RHABDOID TUMOR

Atypical teratoid/rhabdoid tumor (AT/RT) is extremely malignant, highly aggressive primitive central nervous systemneoplasm of infancy with very poor prognosis. Histologically, AT/RT is defined as a polymorphous neoplasm often featuring rhabdoid, PNET, mesenchymal, and epithelial components. We report the clinical history, radioligical, and pathological findings in a child affected bycentral nervous system AT/RT.     

MALIGNANT PHEOCHROMOCYTOMA IN A CHILD: TREATMENT WITH A COMBINATION OF ALPHA- AND BETA-ADRENERGIC BLOCKADE

A case of inoperable malignant pheochromocytoma in a 9-year-old girl is described. On admission to the hospital, the patient was in poor general condition with weight loss, hypertension, a considerable left heart hypertrophy and extremely high concentrations of noradrenaline in central venous blood and urine. Alpha-adrenergic blockade with phentolamine was insufficient to improve her condition. When the beta-adrenergic drug, propranolol, was added, a rapid reduction of blood pressure and heart size to normal values occurred with dramatic improvement of the general condition in spite of continued high urinary output of noradrenaline. It is concluded that the symptomatic treatment of pheochromocytoma may require both alpha- and beta-adrenergic blocking drugs for adequate control of the clinical symptoms in this disease.     

MOLECULAR PATHOLOGY AND MOLECULAR PHARMACOLOGY OF OSTEOSARCOMA

Abnormalities of many tumor suppressor genes and oncogenes have been described in osteosarcoma, but separating early or primary from secondary or late genetic lesions has been difficult. Among early lesions, inactivation of both the P53 and RB pathways appears to be a central and perhaps necessary event in osteosarcomagenesis. We propose a working model for the molecular pathology of osteosarcoma and we review the numerous published studies examining the association of various molecular features with either advanced presentation, poor chemotherapy response or decreased patient survival.     

PATHOGENESIS AND PATHOLOGY OF HEMATOGENOUS INFECTIONS OF THE FETUS AND NEWBORN

The earlier infections occur in intrauterine life the more severe are they. When the infection develops during embryogenesis, the lesions are much more serious, sometimes causing disruptions (malformations). At this time the organs are not completely formed and microorganisms may interfere with organogenesis to such an extent that the development of the functions necessary for viability become impaired. Infection acquired in utero may result in resorption of the embryo, abortion, stillbirth, neonatal death, intrauterine growth retardation (IUGR), or prematurity. The infected newborns commonly are apparently normal at birth but they may develop a late onset disease. Otherwise, neonates presenting symptomatology may develop untoward sequelae.     

PATHOLOGY QUIZ: SMALL CELL OSTOSARCOMA

A 15-year-old black male presented with shortness of breath, leg weakness, and pain in his back and rib cage. Four years previously he had noticed a lump in his upper back and complained of pain when playing basketball, especially on contact to that area. Recently, the pain had become more constant and increased in intensity. This was associated with loss of control in his legs, weakness, and parasthesia. General physical examination revealed a palpable mass in the right midline upper back. Laboratory results were within normal limits. Radiographic scans demonstrated a destructive soft tissue mass at T6 vertebral body with scattered stippled calcification ( Figure 1 ). The patient underwent a biopsy followed by excision of the mass ( Figure 2 ) and decompressive laminectomy with reconstruction.