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44 Cards in this Set
- Front
- Back
Triad of ptosis, opthalmoplegia, and ragged-red fiber myopathy
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Kearns-Sayre and Chronic, Progressive External Opthalmoplegia
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What does Kearn-Sayre have in addition to the triad
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Cardiomyopathy, Diabetes, Cerebellar ataxia, deafness
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Combo of epilepsy, raddged-red fiber myopathy and cerebellar ataxia:
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MERRF (Myoclonic epilepsy and ragged red fiber disease)
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What does MELAS stand for?
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Mitochondrial Encephalomyopathy, Lactic Acidosis, and Stroke-like Episodes
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Key features of mucopolysaccharoidoses:
1) 2) 3) |
1) Course facial features
2) Learning difficulties, dementia, behavior problems 3) Severe bone dysplasia |
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Hurler syndrome defect:
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alpha L iduronidase
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Hurler and Hunter facies:
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Midface hypoplasia, large tongues, coarse facies, macrocephaly
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Common presenting symptom of MPS
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Obstructive sleep apnea from T and A overgrowth
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What are Hurler children at high risk of developing
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Atlantoaxial subluxation
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Which MPS presents with corneal clouding?
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MPS Type 1 (Hurler)
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Which organ system determines prognosis of Hurler syndrome?
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Severity fo cardiac involvement
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Which types of MPS is HSCT useful for?
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Type 1 (Hurler) and Type VI
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Hunter syndrome defect:
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iduronate-2-sulfatase
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What epidemiologic factor is related to Hunter Syndrome?
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Gender; only seen in boys since X-linked recessive
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Pathognomonic rash for Hunter Syndrome?
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nodular rash around scapulae and extensor surfaces
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What is Phase 1 of Sanflippo Syndrome (Type III MPS)
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developmental delay with recurrent URI's and sleep distrubances before age 1
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Phase 2 of Sanflippo Syndrome:
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Severe challenging behavior with hyperactivity or aggression
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Phase 3 of Sanflippo Syndrome:
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Swallowing dysfunction with deterioration to vegetative state; Death by age 20
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What type of MPS presents with dwarfism, odontoid dysplasia, and normal IQ
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Type IV (Morquio Syndrome)
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Hurler + hyperplastic gums= ?
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I-cell deficiency, a mucolipidosis
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What product builds up in sphingolpidoses?
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Ceramide (lipophilic core)
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Which disorder has a common association with Cataplexy and Narcolepsy and can also present with atazia, and HSM?
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Niemann-Pick Disease Type C
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Which disorder is associated with supranuclear vertical-gaze palsy?
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Niemann-Pick Type C
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Which disease and which form first presents with enhanced startle reflex?
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Tay-Sachs, infantile form
Cherry-red macula in 90% |
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What stimulus can cause seizures in Tay-Sachs infants?
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Auditory
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Which form of Tay-Sachs is associated with Askenazi Jewish lineage?
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Juvenile/adult form (school problems, intention tremor leading to muscle weakness and psychiatric symptoms
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Which disease is caused by a deficiency of lysosomal glucocerebrosidase?
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Gaucher Type 1 (most common)
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How is Gaucher Type 1 typically detected and what organ does it spare?
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Splenomegaly on routine exam; spares CNS
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Which lysosomal storage disease presents as pain crisis especially in associate with heat or exercise?
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Fabry disease (X-linked recessive)
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What is seen in the urine of patients with Fabry disease?
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Maltese cross (birefringent lipid globules)
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What is the enzyme defect in Fabry disease?
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alpha galactosidase
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What symptoms is enzyme replacement in Gaucher effective for reversing?
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Skeletal and hematologic complications
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Most patients with Zellweger Syndrome present at what age? What is their clinical course? What is present in large quantities?
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Birth up to 2 years; progressive loss of skills, lose hearing and sight; very long chain fatty acids
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Impaired uptake of ____ in Menkes Disease
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copper
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At what age do children with Menkes have progressive neurologic deterioration?
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2-3 months (boys due to X-linked disease); death around age 2yo
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What are the two forms of porphyrias? Which one is associated with neurologic manifestations?
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hepatic and erythropoietic; hepatic assoc. with neurologic
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Most common symptom of acute intermittent porphyria
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Abdominal pain (no fever, no tenderness) from neurologic etiology
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Common inciting drugs of acute intermittent poprhyria?
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1) Barbiturates
2) Sulfonamides 3) Anti-seizure meds 4) Griseofulvin 5) OCP's |
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What occurs during an intermittent porphyria attack?
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Abdominal pain, proximal muscle weakness, respiratory paralysis, anxiety attacks, SIADH; treat with IV heme ,narcotics and IV glucose
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Deficiency in porphyria cutanea tarda
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hepatic URO-decarboxylase
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Presentation of porphyria cutanea tarda:
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cutaneous photosensitivity and bullae; can also see hypertrichosis and hyperpigmentation
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PCT are predisposed to develop what type of cancer?
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hepatocellular carcinoma
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Treatment of PCT:
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phlebotomy
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An infant male with hemolytic anemia, pallor, and weakness likely has....
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Sideroblastic Anemia; may respond to Vit B6
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