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Hallervorden-Spatz Syndrome


Presentation

  • Late onset group, included patients with different presentations such as behavioural changes, optic atrophy and dystonia. Consanguinity was prominent in this study, being present in 61.5% patients.[ncbi.nlm.nih.gov]
  • Classical and atypical clinical presentations are known.[ncbi.nlm.nih.gov]
  • The symptoms and signs of the syndrome are described, and these can present from infancy to adult life. Dystonia, involuntary movements and spasticity are prominent causes of disability. If the onset is delayed the presentation can be unusual.[ncbi.nlm.nih.gov]
  • The clinical and pathological features, including electron microscopy of a sporadic case of neuroaxonal dystrophy with findings of both Hallervorden-Spatz syndrome (HS) and Seitelberger's disease (SD) are presented.[ncbi.nlm.nih.gov]
  • We present a boy who suffered from regressive developmental milestones since he was 2 years and 6 months old.[ncbi.nlm.nih.gov]
Wheelchair Bound
  • He was completely dependent for activities of daily living and wheelchair bound because of continuous severe dystonic movements in the face, tongue, neck, trunk, and upper and lower extremities while at rest.[ncbi.nlm.nih.gov]
  • As the disease advances, dystonia and spasticity compromise the child's ability to ambulate; most of those with early-onset disease are wheelchair bound by the mid-teens, and some much earlier. PKAN progresses at a non-uniform rate.[ncbi.nlm.nih.gov]
Feeding Difficulties
  • Mental deterioration, emaciation, severe feeding difficulties, and visual impairment occur commonly in the late stages of the disease. The disease has its onset in the first or second decade of life.[medicinenet.com]
Osteopenia
  • The combination of osteopenia in a nonambulatory individual with marked stress on long bones from dystonia places individuals with PKAN at especially high risk for fractures without apparent trauma.[ncbi.nlm.nih.gov]
Abnormal Eye Movement
  • Abnormal eye movements, including vertical saccades and saccadic pursuits, are common.[ncbi.nlm.nih.gov]
Vertical Gaze Palsy
  • Average age of onset is 66 years and other common features include vertical gaze palsy, diplopia, and photophobia, which are not features of PKAN.[ncbi.nlm.nih.gov]
Auditory Hallucination
  • We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy.[ncbi.nlm.nih.gov]
Facial Grimacing
Dysarthria
  • The Hallervorden-Spatz syndrome (HSS) is a rare condition characterized by extrapyramidal and pyramidal signs, dystonia, dysarthria, retinal degeneration, dementia and a progressive course.[ncbi.nlm.nih.gov]
  • The case of an 11-year-old female with the clinical findings of Hallervorden-Spatz syndrome, including progressive dystonia, dysarthria, disturbances of gait, and retinal pigmentary degeneration, is presented.[ncbi.nlm.nih.gov]
  • Dysarthria, dysphagia, and dystonic-athetoid movements of the face and right fingers were marked. Magnetic resonance showed the typical "eye-of-the-tiger" sign.[ncbi.nlm.nih.gov]
  • Abstract Hallervorden-Spatz syndrome (HSS) is a degenerative neurologic disorder associated with progressive rigidity, dystonia, impaired voluntary movement, dysarthria, and mental deterioration.[ncbi.nlm.nih.gov]
  • An atypical form of adult-onset HSS was observed in a 36-year-old man presenting with progressive dysarthria.[ncbi.nlm.nih.gov]
Ataxia
  • The patient presented with a slowly progressive illness with seizures, extrapyramidal symptoms, cerebellar ataxia, dementia, spasticity, myoclonic movements and a severe demyelinating peripheral neuropathy with secondary muscular atrophy.[ncbi.nlm.nih.gov]
  • Hallervorden-Spatz syndrome (HSS) is a neurodegenerative disorder characterized by progressive dementia, dystonia, ataxia, and rigidity. An atypical form of adult-onset HSS was observed in a 36-year-old man presenting with progressive dysarthria.[ncbi.nlm.nih.gov]
  • Although rare, cerebellar ataxia, behavioural abnormalities, parkinsonism and apraxia of eyelid opening were exclusively seen in late onset patients.[ncbi.nlm.nih.gov]
  • We studied a 27-year-old woman who died after a 6-year history of progressive dementia, dystonia, ataxia, apraxia, spasticity, choreoathetosis, visual and auditory hallucinations, and optic atrophy.[ncbi.nlm.nih.gov]
  • […] and accessible format, the book is designed to allow easy identification of relevant information, with the overall organization of topics following established phenotypic classifications of movement disorders such as Parkinsonian syndromes, chorea, ataxia[books.google.com]
Hyperreflexia
  • Neurologically, opisthotonus, rigidity of extremities, dystonia, hyperreflexia, profound emaciation, and bilaterally positive Babinski signs were present.[ncbi.nlm.nih.gov]
  • Each patient had spastic gait, dysarthria, dystonic posturing of both arms and generalized hyperreflexia, but no Kayser-Fleischer rings or retinitis pigmentosa. Blood chemistry, urine copper, serum copper and serum ceruloplasmin were all normal.[ncbi.nlm.nih.gov]
  • Described features include 9,11 : progressive dementia extrapyramidal signs (rigidity, dystonia, choreoathetosis) corticospinal signs (spasticity, hyperreflexia) dysarthria retinitis pigmentosa tremors The clinical course is usually relentlessly progressive[radiopaedia.org]
  • Pyramidal signs including spasticity and hyperreflexia. Retinitis pigmentosa Atypical PKAN : Usually presents around 12-14 years of age. Slower progression. Speech and behavioural problems predominate in the early stages.[genetics4medics.com]
  • Spasticity, hyperreflexia, and other signs of corticospinal tract involvement are common and eventually limit ambulation.[ncbi.nlm.nih.gov]
Pyramidal Tract Signs
  • tract signs. 1 Choreoathetotic movements or tremor may also be present but these features have not been described in isolation.[jnnp.bmj.com]
  • tract signs (rare) Cranial nerve involvement (rare) These disorders include the following: Hypobetalipoproteinemia type 1 (FHBL1; OMIM 615558 ) Hypobetalipoproteinemia type 2 (FHBL2; OMIM 605019 ) FHBL1, FHBL2, and ABL share the findings of acanthocytosis[ncbi.nlm.nih.gov]
Choreoathetoid Movements

Workup

  • (See Presentation and Workup.) [4, 5, 6] PKAN is relentlessly progressive. The clinical course is characterized by progressive dementia, spasticity, rigidity, dystonia, and choreoathetosis.[emedicine.medscape.com]
Visceromegaly
  • Affected children have coarse facial features and visceromegaly consistent with a lysosomal storage disease.[ncbi.nlm.nih.gov]
Granulovacuolar Degeneration
  • Extensive granulovacuolar degeneration (GVD), Hirano bodies and Lewy bodies were also demonstrated. Severe loss of myelin from the peripheral nerves and muscular denervation were striking features.[ncbi.nlm.nih.gov]

Treatment

  • A 12 year old patient with the Hallervorden-Spatz syndrome and suffering from acute intestinal obstruction during treatment with benztropine is presented.[ncbi.nlm.nih.gov]
  • All of these abnormalities were recovered by pantethine treatment and Pank2 / mice behaved in the same way as their control littermates ( Fig. 2 A–C).[doi.org]
  • Western blot analysis with specific hPANK2 antibodies was used to investigate the effect of the RNAi treatment (48 h after RNAi treatment) on hPANK2 protein levels. GAPDH was used as a loading control.[doi.org]
  • […] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience[books.google.com]
  • Bilateral pallidal stimulation is an effective and safe treatment for intractable generalized dystonia in Hallervorden-Spatz syndrome, even if the disability is severe and longstanding.[ncbi.nlm.nih.gov]

Prognosis

  • […] choreoathetosis, torsion spasm–dystonia, parkinsonism, cerebellar ataxia, speech impairment, mental deterioration, generalized rigidity Imaging Cerebral atrophy by CT DiffDx Dementia with extrapyramidal motor defects, Wilson's disease Management None Prognosis[medical-dictionary.thefreedictionary.com]
  • Prognosis: Fatal; Mean duration disease after symptom onset 11 yrs Treatment: No curative treatment. Iron chelation ineffective. Palliative treatment with Baclofen, trihexyphenidyl, stereotactic pallidotomy, Pantothenate (vit B5).[neuroradiologycases.com]
  • (See Presentation and Prognosis.) [7, 8] The disease can be familial or sporadic.[emedicine.medscape.com]

Etiology

  • These findings suggest that obtaining a buffy coat and bone marrow biopsy may aid in the diagnosis of Hallervorden-Spatz syndrome and ultimately provide information regarding etiology.[ncbi.nlm.nih.gov]
  • Hallervorden-Spatz syndrome is generally considered to be an autosomal recessively hereditary disorder of unknown etiology. Some reported cases have been known to be sporadic.[ncbi.nlm.nih.gov]
  • Neurodegeneration with brain iron accumulation (NBIA) is a heterogeneous group of disorders varied in genetic etiologies, clinical presentations, and radiological features.[ncbi.nlm.nih.gov]
  • Etiology The exact etiology of PKAN is not known. One proposed hypothesis is that abnormal peroxidation of lipofuscin to neuromelanin and deficient cysteine dioxygenase lead to abnormal iron accumulation in the brain.[emedicine.medscape.com]

Epidemiology

  • Pantothenate kinase-associated neurodegeneration EPIDEMIOLOGY PKAN was first described by Drs. Julius Hallervorden and Hugo Spatz in 1922.[flipper.diff.org]
  • Relevant External Links for PANK2 Genetic Association Database (GAD) PANK2 Human Genome Epidemiology (HuGE) Navigator PANK2 Atlas of Genetics and Cytogenetics in Oncology and Haematology: PANK2 No data available for Genatlas for PANK2 Gene A novel pantothenate[genecards.org]
Sex distribution
Age distribution

Pathophysiology

  • Here we show that HSS is caused by a defect in a novel pantothenate kinase gene and propose a mechanism for oxidative stress in the pathophysiology of the disease.[ncbi.nlm.nih.gov]
  • The authors examined behavioral and pathophysiologic substrates in a patient with adult-onset Hallervorden-Spatz syndrome who presented with insidious cognitive decline but no motor impairment.[ncbi.nlm.nih.gov]
  • The clarification of the role of oxidative distress in the pathophysiology of the syndrome will fill a large void in the understanding of the condition.[ncbi.nlm.nih.gov]
  • The pathophysiology of PKAN is not understood, and there is no cure to halt or reverse the symptoms of this devastating disease.[ncbi.nlm.nih.gov]
  • His main research interest is in movement disorders, specifically the merging of clinical, electrophysiological and imaging methods to provide insights into the pathophysiology of conditions like dystonia and Parkinson's disease.[books.google.com]

Prevention

  • We here demonstrate that pantethine administration can prevent the onset of the neuromuscular phenotype in mice suggesting the possibility of experimental treatment in patients with pantothenate kinase-associated neurodegeneration.[ncbi.nlm.nih.gov]
  • Brain tissue from patients who have died only hours before is needed, and it must be handled properly to prevent iron from being unintentionally removed from the tissue. Other tissue also is needed, but brain tissue is needed most urgently.[nbiadisorders.org]
  • Mutations in the PANK2 gene likely result in the production of an abnormal version of pantothenate kinase 2 or prevent cells from making any of this enzyme.[ghr.nlm.nih.gov]
  • Prevention of secondary complications: Full-mouth dental extraction when severe orobuccolingual dystonia results in recurrent tongue biting; gastrostomy tube feeding as needed.[ncbi.nlm.nih.gov]

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