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44 Cards in this Set

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