Congenital and acquired (Congenital infection, causes chorioretinitis, hydrocephalus or microcephaly, cerebral calcifications, and psychomotor retardation, often fatal. Acquired meningoencephalitis, usually w/AIDS, seizures, mental confusion, meningeal irritation, coma, and a lymphocytic pleocytosis and increased CSF protein.) Congenital hypothyroidism 1:3,300
Atypical PKU 1:17,000
Hartnup disorder 1:22,000
Methylmalonic acidemia 1:54,000
Argininosuccinic acidemia 1:80,000
Biotinidase deficiency 1:94,000
Maple syrup urine disease 1:240,000
(Beta-galactosidase deficiency. Infants have dysmorphic facial features, like those of the mucopolysaccharidoses: depressed and wide nasal bridge, frontal bossing, hypertelorism, puffy eyelids, long upper lip, gingival and alveolar hypertrophy, macroglossia, and low-set ears. These features, with the bone changes mentioned below, account for the term pseudo-Hurler. Vacuoles are seen in 10 to 80 percent of blood lymphocytes and foam cells in the urinary sediment.
The disease should be suspected in an infant having the facial features of mucopolysaccharidosis and severe early onset neurologic abnormalities.)
(The prevalence of mucopolysaccharides as a whole is approximately 1 per 8,000 births.
This, the classic form, also known as MPS I
MPS II is X-linked and milder than Hurler.
MPS III, progressive intellectual deterioration.
MPS IV, marked dwarfism, skeletal deformity, cervicomedullary compression
This syndrome, MPS VI, includes severe skeletal deformities including short stature, anteriorly beaked vertebrae but normal intelligence.
B-GLUCURONIDASE DEFICIENCY/SLY DISEASE/MPS VII is a rare type of mucopolysaccharidosis, the clinical features of which have yet to be sharply delineated.)
Amino acid, Lysosomal, Mitochondrial, Peroxisomal
Maple Syrup Urine Disease
Lysosomal--as a group, 1/10,000 births
Juvenile Hexosaminidase A Deficiency
Mitochondrial--as a group, 1/10,000
Leber's Hereditary Optic Neuropathy
Kearns-Sayre/Progressive external ophthalmoplegia
Peroxisomal--as a group, 1/30,000 incidence individuals
Chronic rhinitis (allergic, atrophic, cocaine, infectious—herpes, influenza)
Overuse of nasal vasoconstrictors
Head injury with tearing of olfactory filaments
Subarachnoid hemorrhage, meningitis
Toxic (organic solvents, certain antibiotics—aminoglycosides, tetracyclines, corticosteroids, methotrexate, opiates, L-dopa)
Metabolic (thiamine deficiency, adrenal and thyroid deficiency, cirrhosis, renal failure, menses)
Compressive and infiltrative lesions (craniopharyngioma, meningioma, aneurysm, meningoencephalocele)
Degenerative diseases (Parkinson, Alzheimer, Huntington)
Temporal lobe epilepsy
Malingering and hysteria
Bipolar cells (Rods and cones transform light energy into electrical signals, which are transmitted to the bipolar cells of the retina and then, in turn, to the superficially placed neurons, or ganglion cells, the axons of which stream across the inner surface of the retina to the optic discs, optic nerves, chiasm, and tracts. These travel to the LGB, superior colliculi, pretectum, and suprachiasmatic nucleus of hypothalamus.) Vasculitis (eg polyarteritis nodosa, Wegener's granulomatosis, allergis angiitis, granulomatosis syndromes....also infections-leprosy, lyme, hiv, herpes, hepatitis, cmv; infiltration by sarcoid, leukemia, lymphoma, HNLPP, diabetes)