Hallervorden-Spatz, syndrome or disease

[MIM 234 200]

(Hallervorden-Spatz globus pallidus degeneration, adult neuroaxonal dystrophy, neurodegenerative syndrome with cerebral iron accumulation type 1, Neurodegeneration associated with panthotenate kinase deficiency, NBIA1 acronym for Neurodegeneration with Brain Iron Accumulation-1, PANK acronym for Panthotenate Kinase-Associated Neurodegeneration)

Prevalence: 1 -3 /106. Autosomal recessive neurodegenerative syndrome with iron deposits in the central nervous system (globus pallidus and locus niger). Half the patients have a mutation in the panthotenate kinase 2 (PANK2) gene (20p13-p12.3), which is critical for coenzyme A synthesis in mitochondria and is involved in vitamin B5 metabolism. 


Despite inter-individual and intra-familial diversity in signs and symptoms, a distinction is made between :


-         classic form (75 %): early onset, generally before 6 years of age, and rapid progression. Difficult walking and falls due to dystonia, rigidity, balance problems or spasticity. Loss of walking between 10 and 15 years after onset. Often: retinal pigment degeneration and dysarthria. Sometimes: dystonic malaise precedes neurological deterioration. Sometimes: developmental delay, mainly motor, sometimes global. Possible complications: dysphagia, gastroesophageal reflux, chronic constipation, inhalation pneumonitis and malnutrition.  Death around age 20

-         atypical form (25 %): later onset, after 10 years of age (between 13 and 14), and slower progression. Language difficulties, mild gait abnormalities, and psychiatric symptoms that may include depression, emotional lability, impulsivity or violent outbursts, verbal and motor Tourette syndrome. Motor impairment is generally less severe, and loss of mobility occurs between 15 and 40 years after the onset of the disease. Pigmentary retinal degeneration is rare.

-         in association with hypoprebetalipoproteinemia and acanthosis nigricans, this is known as HARP syndrome [MIM 607 326]: Hypoprebetalipoproteinemia, Acanthocytosis, Retinitis pigmentosa, and Pallidal degeneration.


MRI: classic "eye of the tiger" sign, hyperintensity of the central region surrounded by a ring of hypointensity on coronal and transverse T2-weighted images of the globus pallidus.

Treatment: antiparkinsonian drugs.


Anesthetic implications: 

No succinylcholine in cases of motor impairment; avoid dopamine antagonists (metoclopramide, domperidone), which may aggravate dystonia.


References : 

-        Keegan MT, Flick RP, Matsumoto JY, Davis DH, Lanier WL.
Anesthetic management for two-stage computer-assisted, stereotactic thalamotomy in a child with Hallervorden-Spatz Disease.
J Neurosurg Anesthesiol 2000; 12:107-11.

-        Klopstock T, MercimekAndrews S, Jureck A, Wood P, Cwyl M, Klucken A et al.
Patient and caregiver experiences with pantothenate kinaseassociated neurodegeneration (PKAN): results from a patient community survey.
Orphanet Journal of Rare Diseases 2023 ; 18:257  doi. 10.1186/s13023-023-02869-1


Updated: November 2023