A 2-year-old retarded child is evaluated by a metabolic specialist

Discussion in 'Plab 1 and 2 forum' started by Neha Gupta, Jun 7, 2013.

  1. Neha Gupta

    Neha Gupta Active Member

    A 2-year-old retarded child is evaluated by a metabolic specialist. The child\'s history is significant for failure to thrive and progressive neurologic deterioration, including deafness and blindness. Physical examination is remarkable for hepatosplenomegaly, as well as a cherry-red spot on funduscopic examination. These symptoms are consistent with a diagnosis of

    a) Hunter syndrome

    b) Niemann-Pick disease

    c) Pompes disease

    d) tyrosinosis

    e) von Gierke\'s disease
  2. Neha Gupta

    Neha Gupta Active Member

    The answer is B.

    Hepatosplenomegaly accompanied by progressive neurologic deterioration should make you think of lipid storage diseases; Niemann-Pick disease is the only lipid storage disease in the answer choices. Niemann-Pick disease is due to a deficiency of sphingomyelinase, leading to an accumulation of sphingomyelin. It is most common among Ashkenazic Jews and generally results in death by age 2. The cherry-red spot is also a characteristic of Tay-Sachs disease, but hepatosplenomegaly suggests Niemann-Pick disease rather than Tay-Sachs. Hunter syndrome (choice A) is a mucopolysaccharidosis, inherited in an X-linked recessive fashion. Pompe\'s disease (choice C) is a glycogen storage disease characterized by hypotonia and cardiorespiratory failure. Tyrosinosis (choice D) is a rare abnormality of tyrosine metabolism that would not produce the listed symptoms. von Gierke\'s disease (choice E) is a severe form of glycogen storage disease characterized by hypoglycemia, hepatomegaly, and renomegaly.
  3. Neha Gupta

    Neha Gupta Active Member

    The most likely diagnosis is an intracranial meningioma. Meningiomas are slow-growing, benign tumors comprising 15% of intracranial tumors; they are most common in the elderly. They originate from either dura mater or arachnoid and are sharply demarcated from brain tissue. Meningiomas often incite an osteoblastic reaction in the overlying cranial bones. Microscopically, the meningioma cells have a tendency to encircle one another, forming whorls and psammoma bodies. Clinically, they present as mass lesions; seizures may occur. The superior parasagittal surface of the frontal lobes is a favorite site of origin. This can often produce leg weakness, since the leg motor fibers that pass down through the internal capsule originate in parasagittal cortical regions. Treatment of meningiomas is usually surgical. Arachnoid cysts (choice A) are formed by splitting of the arachnoid membrane; most arachnoid cysts arise near the Sylvian fissure. They may present with mass effect, but would be unlikely to produce seizures, prominent focal signs, or reactive hyperostosis. Glioblastoma multiforme (choice B) is an aggressive malignant astrocytoma that would likely have killed the patient long before 5 years had elapsed. Metastatic breast cancer (choice D) would generally look different microscopically (the whorling cell pattern is characteristic of meningioma). It would be unlikely for metastatic cancer to cause a reaction in the overlying bone, or to be enough to cause symptoms for 5 years. Oligodendrogliomas (choice E) are glial tumors that could produce the described clinical picture, but usually do not cause hyperostosis of the calvarium or exhibit the characteristic whorling cell pattern microscopically

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