Storage disease

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Sections available in full article Introduction, Presenting signs, Age predisposition, Sex predisposition, Breed predisposition, Cost considerations, Special risks (e.g. anesthetic), Pathogenesis, Etiology, Pathophysiology, Timecourse (incubation, duration), Diagnosis, Presenting problems, Client history, Clinical signs, Diagnostic investigation, Confirmation of diagnosis, Gross autopsy findings, Histopathology findings, Differential diagnosis, Treatment, Initial symptomatic treatment, Standard treatment, Monitoring, Subsequent management, Prevention, Control, Prophylaxis, Sequelae, Prognosis, Expected response to treatment, Reasons for treatment failure, Sources, Publications, Vetstream contributor(s),
Contributors Dr Kyle Braund BVSc MVSc PhD FRCVS DipACVIM
Mr Paul Cuddon BVSc DipACVIM
Dr Laurent Garosi DVM DipECVN MRCVS
Synonyms Metabolic storage disease; degenerative storage disease, ceroid lipofuscinosis (ceroidosis), fucosidosis, gangliosidosis (GM1, GM2), globoid cell leucodystrophy (Krabbe's disease), sphingomyelinosis (Niemann-Pick disease, sphingomyelin lipidosis), glycogen storage disease (glycogenosis type Ia, II, III, VII), Gaucher's disease (glucocerebrosidosis), mucopolysaccharidosis (MPS I, II, IIIa, VI, VII).

Introduction

  • Group of genetic diseases associated with failure of metabolic pathway → accumulation of substances within lysosomal system → impaired cellular function.
  • Signs : multifocal neurological signs.
  • Cause : specific enzyme deficiency due to genetic defect, may occur as breed-specific inherited disease. Usually autosomal recessive mode of inheritance.
  • Signs : chronic, progressive neurological signs - ataxia, behavioral change, blindness, seizures and tetraplegia.
  • Diagnosis : lysosomal enzyme analysis or molecular genetic testing.
  • Treatment : none.
  • Prognosis : poor.

Diagnosis

Clinical signs

  • Variable, dependent on enzyme deficiency.
  • Fine generalized muscle tremors.
  • Intention tremor (cerebellar).
  • Abnormal gait/wide-based stance.
  • Blindness.
  • Deafness.
  • Hypermetria.
  • Behavior change.
  • Spastic paraplegia.
  • Dementia.
  • Retinal atrophy.
  • Heart murmur.
  • Corneal clouding or cataract formation.
  • Seizures.
  • Generalized lower motor neuron paresis with decreased reflexes and palmigrade/plantigrade stance.
  • Hepato-splenomegaly.
  • Abnormal feces.
  • Thoracolumbar spinal cord dysfunction (mucopolysaccharidosis, especially MPSVI) :
    • Pelvic limb paresis/paraplegia.
    • Incontinence.

Diagnosis

Differential diagnosis

  • Cerebellar disease Cerebellum: disease (hypoplasia, abiotrophy).
  • Hypomyelination/demyelination.
  • Congenital/inherited polyneuropathies.
  • Hydrocephalus Hydrocephalus.
  • Meningitis Meningitis.
  • Inflammatory demyelinating disease (canine distemper).

Sequelae

Prognosis

  • Poor.
  • With some diseases animal may live 3-4 years.

Expected response to treatment

  • Look for stabilization of clinical signs.
  • Lysosomal storage diseases show no improvement with any medical therapy.

Reasons for treatment failure

  • Treatment is ineffective at this time for all of the lysosomal storage diseases.
  • Incorrect diagnosis.
  • Owner non-compliance.
  • Inadequate nursing care.

Sources

Publications

Refereed papers

  • Recent references from PubMed.
  • Skelly B J & Franklin R J M (2002) Recognition and diagnosis of lysosomal storage diseases in the cat and dog. JVIM 16 133-144.
  • Jolly R D, Ehrlich P C, Franklin R J M et al(2001) Histological diagnosis of mucopolysaccharidosis IIIA in a wire-haired dachshund. Vet Rec 148 564-567.
  • Cozzi F (1998) MRI and electrophysiological abnormalities in a case of canine globoid cell leucodystrophy. JSAP 39 (8), 401-405.
  • Fischer A et al(1998) Sulfaminidase deficiency in a family of dachshunds - a canine model of mucopolysaccharidosis IIIa.Sanfilipo A. Pediatric Res 44 (1), 74-82.
  • Holmes N G et al(1998) A PCR-based diagnostic test for fucosidosis in English Springer Spaniels. Vet J 155 (2), 113-114.
  • Muller G et al(1998) Biochemical findings in a breeding colony of Alaskan Huskies suffering from GMI-gangliosidosis. J Inher Metab Dis 21 (4), 430-431.
  • Brix A E et al(1995) Glycogen storage disease Type Ia in two littermate Maltese puppies. Vet Pathol 32 (5), 460-465.
  • Alroy J et al(1994) Canine GM-gangliosidosis - a clinical, morphologic, histochemical and biochemical comparison of two different models. Am J Pathol 140 , 675-689.
  • Jolly R D, Palmer D N & Studdert V P et al(1994) Canine ceroid lipofuscinoses - a review and classification. JSAP 35 , 299-306.
  • Kuwamura M et al(1993) Type C Niemann-Pick disease in a boxer dog. Acta Neuropathol 85 (3), 345-348.
  • Sisk D B (1990) Clinical and pathological features of ceroid lipofuscinosis in two Australian cattle dogs. JAVMA 197 (3), 361-364.
  • Taylor R M (1989) Reproduction abnormalities in canine fucosidosis. J Comp Pathol 100 (4), 369-380.
  • Vicini D S (1988) Peripheral nerve biopsy for diagnosis of globoid cell leucodystrophy in a dog. JAVMA 192 (8), 1087-1090.
  • Barker C G, Herrtage M E, Sharahan F & Winchester (1988) Fucosidosis in English Springer spaniels - results of a trial screening programme. JSAP 29 (10), 623-630.

Other sources of information

  • Merck Veterinary Manual (1998) 8 , pp 907-911.
  • Oliver J E (1997) Handbook of Veterinary Neurology 3. pp 279, 343-345.
  • Ettinger S J (1995) Textbook of Veterinary Internal Medicine 4. pp 528, 618, 659, 708, 719.
  • DeLahunta A (1983) Veterinary Neuroanatomy and Clinical Neurology 2. pp 272, 296.

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