Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with. Pantothenate kinase-associated neurodegeneration (PKAN), also known as neurodegeneration with brain iron accumulation 1 (NBIA1), also called Hallervorden–Spatz syndrome, is a degenerative disease of the. Hallervorden-Spatz syndrome was first described in by Drs. Julius Hallervorden and Hugo Spatz with their study of a family of 12 in which five sisters.
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Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis. This reporting intends to highlight Hallervorden-Spatz syndrome as a rare cause of extrapyramidal manifestations and the interesting radiologic picture of the disease. Hallervorden-Spatz syndrome [HSS] is a rare neurodegenerative disorder of autosomal recessive inheritance characterized by accumulation of iron in basal ganglia.
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The syndrome encompasses a spectrum of clinically heterogeneous disorders characterized by common features of neurodegeneration and brain iron accumulation. The disease may present in childhood and progress relentlessly culminating in early death [classical HSS] or may present in second or third decade with slow progression [atypical HSS]. Involvement of corticospinal tract with spasticity and extensor plantars, cognitive decline, speech disturbances, degenerative retinopathy with visual disturbances and psychiatric disturbances may also be seen.
Pathological findings in brain include rust brown pigmentation due to iron deposition, axonal swellings or spheroids and neuronal loss with gliosis predominantly in the globus pallidus and pars reticularis of the substantia nigra. A young girl of 18 years [ Figure 1 ] was brought with progressive complaints of difficulty in walking and abnormal posturing of head and limbs for 4 years. She was apparently well till the age of 14 years when she started having stiffness and abnormal posturing of left leg which made her walk on her left forefoot.
The right lower limb was involved in a similar fashion over next 6 months. Patient later developed abnormal twisting movements and awkward posturing syndgome both upper s;atz [18 months before current syndromee.
She was also noticed to keep her head persistently extended with mouth wide open and trunk arched backwards in an awkward manner simultaneously. She had difficulty in speaking and had turned mute for the previous one year.
All the abnormal movements subsided during sleep. There was progressive difficulty in walking with frequent falls for the past 1 year but she could still ambulate with assistance. She had stopped attending the school for the past 2 years and till that time her scholastic performance had apparently remained normal. There was no history of seizures, jaundice, visual or psychiatric disturbances. Her birth was uneventful and there was no delay in attaining the milestones.
Family history was not significant. Physical examination revealed an average built young female with hypertrophy of both sternocleidomastoids. There was rigidity of all four extremities with cogwheeling and with normal tendon jerks.
Both plantars were extensor. She exhibited dystonic posturing of extremities, trunk, head and neck as well hallervordne oromandibular dystonia. No tremors or choreoathetotic movements were seen. Slit lamp examination of the eye did not reveal Kayser-Fleischer ring. Fundus examination was unremarkable.
Other nervous system and systemic examination was unremarkable. Routine laboratory evaluation was normal. Peripheral blood film did not reveal acanthocytes.
Pantothenate kinase-associated neurodegeneration | Radiology Reference Article |
Based on the clinical presentation and the characteristic MRI scan findings, a diagnosis of Hallervorden-Spatz syndrome was made. At 2 months follow up, patient has shown only modest improvement of rigidity and dystonia without any hallrevorden in speech.
The latter two may have similar neurologic features with HSS but can be distinguished from HSS by later onset during adulthood, MRI findings, laboratory tests [undetectable serum caeruloplasmin and low serum ferritin respectively] and genetic testing.
Our patient had onset of extrapyramidal symptoms like dystonia and rigidity during second decade which were progressive. Patient showed evidence of extrapyramidal and corticospinal tract involvement. The hypointensity on T2 weighted image is because of iron deposition and central hyperintensity is secondary to gliosis and spongiosis. The pathogenesis of HSS involves pantothenate kinase 2 [PANK2] gene mutation 2 causing defective phosphorylation of pantothenic acid [required for synthesis of coenzyme A].
This has been postulated to result in underutilization and accumulation of cysteine in basal ganglia which, hallervordeb in excess causes chelation of iron leading to free toxic radicals production.
The preferential involvement of basal ganglia is attributed to the excess of pantothenate kinase receptors.
In a study of 16 HSS patients reported from northern India, 7 the commonest clinical presentation was with limb or cranial onset progressive dystonia as seen in the index case. Other reported manifestations 1578 like seizures, psychiatric disturbances and acanthocytes in the peripheral blood smear were not seen in our patient.
Although, an electroretinographic evaluation could not syndrone done, there was no clinical evidence of optic atrophy or pigmentary degeneration of retina in our patient.
Our patient had hypertrophied sternomastoid muscles because of persistent cervical dystonia. She had turned mute because of severe oromandibular dystonia after initial dysarthria. Speech disturbances like palilalia, synrrome have been described in HSS. Treatment of HSS is unsatisfactory. It involves pharmacologic [levodopa, trihexyphenidyl, baclofen and bromocriptine] and surgical [deep brain stimulation] interventions aimed at palliation of symptoms.
Iron chelation therapy has not shown benefit. National Center for Biotechnology InformationU. Journal List Ann Neurosci v. Author information Copyright and License information Disclaimer. Abstract Hallervorden-Spatz syndrome is a rare neurodegenerative disease of autosomal recessive inheritance which presents in childhood or early adulthood with dystonia, dysarthria, rigidity and choreoathetosis.
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Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome. N Engl J Med. Racial hygiene, active euthanasia and Julius Hallervorden. Clinical and magnetic resonance imaging correlations: Clinical spectrum ysndrome Hallervorden-Spatz syndrome in India.