ICD9Data.com   Free 2008 ICD-9-CM Database

2008 ICD-9-CM Volume 1 Diagnosis Codes Home > Diseases Of The Nervous System And Sense Organs 320-389 > Hereditary And Degenerative Diseases Of The Central Nervous System 330-337 > Cerebral Degenerations Usually Manifest In Childhood 330.* > 2008 ICD-9-CM Diagnosis 330.0 Leukodystrophy A degenerative disease of the central and peripheral nervous system caused by abnormal breakdown and turnover of myelin and marked by reduced galacosylceramide beta-galactosidase activity (EC 3.2.1.46). Two types based on the age of onset are recognized: Infantile-onset Krabbe disease is marked by the appearance of symptoms at ages 3-6 months, which include irritability, frequent crying, and increase of muscle tonus. They are followed by opisthotonos, less of tendon reflexes, visual failure, elevated cerebrospinal fluid proteins, and delayed nerve conduction velocity. Most infants die during the second year of life. Late-onset Krabbe disease (LOKD) has first symptoms at ages 5 to 10 years, consisting of focal neurological signs, hemiparesis, cerebellar ataxia, cortical blindness, and spastic paraplegia, followed by mental and physical deterioration. Some patients survive into adulthood. A dysmyelinating disorder of the central nervous system associated with a decrease in all myelin proteins, especially proteolipid protein. Several types are recognized: acute infantile types Synonyms: familial chronic infantile diffuse sclerosis perinatal sudanophilic leukodystrophy chronic infantile diffuse cerebral sclerosis adult-onset leukodystrophy Synonyms: late-onset type multiple sclerosis-like disorder autosomal dominant Pelizaeus-Merzbacher disease Pelizaeus-Merzbacher-like disease (PMLD) Synonym: Pelizaeus-Medrzbacher disease with normal proteolipid protein In its classical form, the disease has an onset in the first three months of life with nystagmus followed by slowly progressive psychomotor retardation, involuntary movements, ataxia, and death in the second decade of life. The chronic infantile type may begin as early as the eight day of life and is slowly progressive so that the patient may survive to middle age. The early symptoms include rotary movements of the head and eyes, which may vanish later in life, usually followed by spasticity of the legs and arms, cerebellar ataxia, dementia, and parkinsonian tremor. The adult form has its onset in the fourth or fifth decades and is marked mainly by cerebellar, autonomic, and pyramidal disorders. Urinary and rectal incontinence, orthostatic hypotension, and progressive spasticity are the main symptoms. Pelizaeus-Merzbacher-like disease is marked by symptoms characteristic of the classical form in, but with normal myelin which, however, is arranged into ball-like structures in the oligodendrocyte perikarya and terminal processes. A rare, slowly progressive disorder of myelin formation. Subtypes are referred to as classic, congenital, transitional, and adult forms of this disease. The classic form is X-chromosome linked, has its onset in infancy and is associated with a mutation of the proteolipid protein gene. Clinical manifestations include TREMOR, spasmus nutans, roving eye movements, ATAXIA, spasticity, and NYSTAGMUS. Death occurs by the third decade of life. The congenital form has similar characteristics but presents early in infancy and features rapid disease progression. Transitional and adult subtypes have a later onset and less severe symptomatology. Pathologic features include patchy areas of demyelination with preservation of perivascular islands (trigoid appearance). (From Menkes, Textbook of Child Neurology, 5th ed, p190) An autosomal recessive inherited sphingolipidosis caused by a deficiency of GALACTOSYLCERAMIDASE leading to an accumulation of PSYCHOSINE in LYSOSOMES of the BRAIN; PERIPHERAL NERVES; LIVER; KIDNEY; and LEUKOCYTES. In the nervous system there is prominent central and peripheral demyelination. The infantile form presents at age 4-6 months with psychomotor retardation, MUSCLE SPASTICITY, and tonic spasms induced by minor stimuli. Death occurs within two years. Later onset forms of this disease are characterized by a less fulminant course. (From Menkes, Textbook of Child Neurology, 5th ed, pp195-7) An autosomal recessive lysosomal storage disease caused by a deficiency of CEREBROSIDE-SULFATASE leading to an accumulation of cerebroside sulfate in the nervous system and other organs. Pathologic features include diffuse demyelination and metachromatically-staining granules within glial cells, macrophages, and free in tissue. Clinical subtypes include late infantile, juvenile, and adult forms. The late infantile form presents at 12-18 months of age with progressive psychomotor retardation, ATAXIA, spasticity, and OPTIC ATROPHY. The juvenile form has onset at 4-12 years and features behavioral alterations and ataxia followed by spasticity, DEMENTIA, and visual loss. The adult form presents in the second decade or later with psychiatric manifestations, gait difficulties, and less often as a peripheral neuropathy. (From Menkes, Textbook of Child Neurology, 5th ed, pp192-5) 330.0 is a specific code that can be used to specify a diagnosis 330.0 contains 35 index entries View the ICD-9-CM Volume 1 330.* hierarchy 330.0 also known as: Krabbe's disease Leukodystrophy: NOS globoid cell metachromatic sudanophilic Pelizaeus-Merzbacher disease Sulfatide lipidosis Index entries containing 330.0: Aplasia - see also Agenesis axialis extracorticalis (congenital) 330.0 extracortical axial 330.0 Pelizaeus-Merzbacher 330.0 Canavan's disease 330.0 Disease, diseased - see also Syndrome Canavan's 330.0 Greenfield's 330.0 Krabbe's 330.0 Merzbacher-Pelizaeus 330.0 Pelizaeus-Merzbacher 330.0 with dementia with behavioral disturbance 330.0 [294.11] without behavioral disturbance 330.0 [294.10] Scholz's 330.0 van Bogaert-Nijssen (-Peiffer) 330.0 Encephalopathy (acute) 348.30 leukopolio 330.0 Greenfield's disease 330.0 Krabbe's disease (leukodystrophy) 330.0 Leukodystrophy (cerebral) (globoid cell) (metachromatic) (progressive) (sudanophilic) 330.0 Leukoencephalopathy (see also Encephalitis) 323.9 metachromatic 330.0 Leukopolioencephalopathy 330.0 Lipidosis 272.7 sulfatide 330.0 Merzbacher-Pelizaeus disease 330.0 Myeloleukodystrophy 330.0 Pelizaeus-Merzbacher disease 330.0 sclerosis, diffuse cerebral 330.0 Scholz's disease 330.0 Scholz (-Bielschowsky-Henneberg) syndrome 330.0 Sclerosis, sclerotic brain (general) (lobular) 341.9 diffuse 341.1 familial (chronic) (infantile) 330.0 infantile (chronic) (familial) 330.0 Pelizaeus-Merzbacher type 330.0 infantile (degenerative) (diffuse) 330.0 Krabbe's 330.0 Pelizaeus-Merzbacher 330.0 progressive familial 330.0 centrolobar, familial 330.0 Sulfatidosis 330.0 Syndrome - see also Disease Scholz (-Bielschowsky-Henneberg) 330.0 van Bogaert-Nijssen (-Peiffer) disease 330.0