[MIM 250 100]

(Greenfield disease, Scholz disease)

Incidence: 1/40,000 to 1/100,000 in Europe and North America. Neurodegenerative disease caused by the progressive destruction of myelin in the central and peripheral nervous systems due to the accumulation of sulfatides in myelin. De novo mutation or autosomal recessive transmission of a mutation (deletion) of the ARSA gene (22q13), coding for arylsulfatase A (a lysosomal enzyme).

Several clinical forms have been described:

-        late infantile (50 % of cases): onset before 30 months of age. Mental deterioration after early normal development: ataxia, dysarthria, hypotonia, spasticity, hyporeflexia, optic atrophy, often convulsions. 

-        juvenile: early onset between 4 and 6 years of age or late onset between 6 and 16 years of age; intellectual decline, behavioral disorders (disinhibition, impulsivity), memory impairment, personality changes, ataxia, peripheral neuropathy, sometimes convulsions.

-        adult: onset around age 16 years of age, mainly with psychiatric signs (schizophrenia, bipolar disorders); movement and posture disorders appear later; dysesthesias are present.

-        partial cerebroside sulfate deficiency

-        arylsulfatase pseudodeficiency: biological deficit without any neurological abnormalities.

There are also other forms of metachromatic leucodystrophy:

-        metachromatic leukodystrophy due to saposin B deficiency [MIM 249 900].

-        juvenile sulfatidosis [MIM 272 200] also called multiple sulfatase deficiencies (see this term) or mucosulfatidosis, which combines  clinical features of mucoplysaccharidosis and metachromatic leukodystrophy.

Treatments:

-        symptomatic: gastrostomy, anticonvulsants, baclofen, botulinum toxin, etc.

-        bone marrow or cord blood transplants, the results of which depend on the neurological state prior to transplantation

-        retrovirus gene therapy

-        fortnightly intrathecal administration of recombinant arylsulfatase A

Anesthetic implications:

mental retardation, gastroesophageal reflux, contractures, convulsions. Epidural anesthesia has been used without causing any post-operative neurologic degradation.

Apparently normal response to non-depolarizing muscle relaxants, but difficulty to monitor curarization (contractures). Immunosuppression if transplanted.

Increased risk of perioperative complications strongly correlated with the neurological severity score (1 to 5), which includes increased muscle tone, presence of clonus or abnormal tendon reflexes, aspiration or staring crises, presence of apneas and convulsions.

References:

-        Malde AD, Naik LD, Pantvaidya SH, Oak SN.
An unusual presentation in a patient with metachromatic leoco dystrophy.
Anaesthesia 1997 ; 52 : 690-4.

-        Hernandez-Palazon L.
Anaesthetic management in children with metachromatic leucodystrophy.
Pediatr Anesth 2003 ; 13 : 733-4

-         Mattioli C, Gemma M, Baldoli C, Sessa M, Albertin A, Beretta L.
Sedation for children with metachromatic leukodystrophy undergoing MRI.
Pediatr Anesth 2007 ; 17 : 64-9

-        Birkholz T, Irouschek A, Knorr C, Schmidt J.
Alternative anesthetic management of a child with spastic quadriplegia due to metachromatic leukodystrophy using total intravenous anesthesia.
Pediatr Anesth 2009 ; 19 : 551-2

-        Bascou NA, Marcos MC, Beltran Quintero ML, Roosen-Marcos MC, Cladis FP, Poe MD, Escolar ML.
General anesthesia safety in progressive leukodystrophies: a retrospective study of patients with Krabbe disease and metachromatic leukodystrophy.
Pediatr Anesth 2019; 29: 1053-9

Updated: September 2024