Lysosomal and Other Storage Diseases Storage material (complex lipid, saccharide, or protein) accumulates in lysosomes due to genetically determined deficiency of a catabolic enzyme. Inheritance recessive, usually autosomal, occasionally X-linked….
Disorders of Purine and Pyrimidine Metabolism Purines and pyrimidines: heterocyclic compounds with important roles in nucleotide synthesis, generation of energy compounds (ADP, ATP), signaling pathways (cyclic AMP). Several distinct disorders…
Disorders of Amino Acid Metabolism Incidence: phenylketonuria 1:10,000; defective amino-acid transport 2:10,000; all other aminoacidopathies <8:100,000. Neurologic damage frequently preventable with early treatment; mass newborn screening important for early diagnosis….
Chromosomal Diseases Abnormal total number of chromosomes (aneuploidy) or structural rearrangement (deletion, translocation, duplication). Clinical manifestations: mental retardation (most common), variable congenital malformations. Trisomy 21 (Down Syndrome) Extra copy of…
Marcus Gunn and Möbius Syndromes Marcus Gunn Syndrome Eyelid rises when mouth opens (jaw drops); lid comes down when mouth closes (jaw rises). “Jaw-winking.” Usually accompanied by congenital unilateral ptosis….
Structural Malformations Malformations of Cerebral Hemispheres and Agenesis of Corpus Callosum Holoprosencephaly: single-lobed brain, one undivided ventricle. Failure of cleavage of telencephalon and diencephalon. Incomplete variants: semilobar, lobar holoprosencephaly. Associated…
Laurence-Moon-Biedl Syndrome Clinical Features Variable manifestations, primarily combination of obesity and hypogonadism in childhood or adolescence. Obesity (85% to 95%); mental retardation (70% to 85%); retinitis pigmentosa (92% to 95%);…
Static Disorders of Brain Development Developmental Disorders of Motor Function Minor Motor Disability Minor impairments of motor coordination; clumsiness. Neurologic basis rarely known. Often occur in children with other specific…
Floppy Infant Syndrome Decreased muscle tone throughout body. Limply hanging limbs when infant held suspended in prone position. Most common causes (75% of cases): perinatal insult to brain or spinal…
Neonatal Neurology Intracranial Hemorrhage Full term: (a) supratentorial subdural (rare; difficult deliveries); (b) primary subarachnoid of venous origin (focal seizures, benign course). Premature (≤32 weeks of gestation): parenchymal, periventricular origin….
