Neuro Shelf - Peds

gross motor skills, fine motor skills, language, and personal-social interaction

due to pre or perinatal damage to cerebromotor pathways

-hemiparetic - weakness and spasticity are seen on one side of the body (fisting on the affected side, early hand preference, increased reflexes)

-diparetic - spasticity of all 4 limbs, kids usually normal intelligence, less likely to have seizures vs other forms of CP

-spastic quadriplegic - all four limbs affected, seizures within first 48 hours of life, maybe cerebral hypotonia

• Mild - IQ 55-70
• Moderate - 40-55
• Severe - 25-40
• Profound - less than 25

elicited by head extension: extension and abduction of arms and legs. asymmetry indicates CNS disease

present from birth - 3 months

Turning head: arm and leg extended on the side of the turn with flexion on the other side. If infant is uable to move out of posture, implies possible brain pathology

present from 1-5 months

Lift baby by tration in both hands. Head lag after 6 months is pathologic and indicates hypotonia

present birth - 6 months

Elicited by plunging suspended infant downward. Arms should thrust forward symmetrically as if breaking the fall. Also elicited with baby in sitting position pushed forward.

present 6 months to end of life

Metabolic defect - hexosaminidase A

chromisome - 15

notes - cherry red spot

Metabolic defect - sphingomyelinase

chromisome - 11

notes - chery red spot

• Metabolic defect -glucocerebrosidase
• chromisome - 1
• notes - cherry red spot, gaucher cells in bone marrow

• Metabolic defect - galactosylceraminde beta-galactosidase
• chromisome - 14
• notes - globoid cells with periodic-acid Schiff positive granules

• Metabolic defect - alpha-L-iduronidase
• chromisome - 4
• notes - clouding of cornea, characteristic facies and dwarfism

• Metabolic defect - iduronate sufatase
• chromisome - x-linked
• notes - hurler phenotype without corneal clouding

• Metabolic defect - arylsulfatase A
• chromisome - 22
• notes - cherry red spot, demyelinating, can present as schizophrenia in adults, positive urine sulfatides

• Metabolic defect - very long chain fatty acid oxidation
• chromisome - x-linked
• notes - white matter hyperintensity of MRI, may present as neuropathy or myelopathy in adults

• Metabolic defect - glial fibrillary acidic protein
• chromisome - 11 or 17
• notes - rosenthal fibers on biopsy, macrocephaly, dysmyelination of CNS

• Metabolic defect - aspartoacylase
• chromisome - 17
• notes - macrocephaly, dysmyelination of the CNS

• Metabolic defect - proteolipid protein
• chromisome - x-linked
• notes - pendular nystagmus, dysmyelination of CNS

• Metabolic defect - mitochondrial
• chromisome - AR or x-linked
• notes - bilateral putaminal hyperintensity of MRI

• Metabolic defect - methyl-CpG-binding protein-2
• chromisome - x-linked
• notes - occurs only in girls: microcephaly, autism, hand-wringing

• Metabolic defect - excess lipofuscin storage
• chromisome - many
• notes - dementia, myoclonus, ataxia, retinitis pigmentosa

AD, chromosome 17

optic nerve gliomas, cafe-au-lait spots, neurofibromas, axillary or inguinal freckles, lisch nodules in iris

AD, 22

bilateral acoustic neuromas, cafe-au-lait spots less common than NF1

AD

cortical tubers, subependymal nodules and astrocytomas, mental retardation, seizures, adenoma sebaceum, ash-leaf spots, shagreen patches, angiomyolipomas of kidneys, cardiac rhabdomyoma

AR, 11

truncal ataxia, progressive dementia, telangiectasias, immunodeficiency

AD, 3

cerebellar hemangioblastomas, ataxia, renal lesions (carcinomas, pheochromocytoma, etc)

sporadic inheritance

venous angioma of pia mater, seizures, hemiparesis, mental retardation, port-wine stain