Current Neurobiology 2011 Volume 2 Issue 1 67 Current Neurobiology 2011; 2 (1): 67-69 Hallevorden Spatz Disease: A Diagnosis Missed Dipti Kumar, Akshay Kapoor, B.Rath, Rajesh Meena Department of Pediatrics, Lady Harding Medical College, New Delhi Keywords: Hallevorden Spatz Disease, Neurodegenerative, Dystonia, Pantothenate Kinase Accepted January 11 2011 Abstract Hallervorden-spatz disease is a rare neurodegenerative disorder. We describe a child who presented with regression of milestones and progressive dystonia, along with the character- istic “eye-of-the-tiger” appearance on MRI. Interestingly, the child was being treated earlier as a case of spastic paraplegia of undetermined cause with a normal MRI scan previously. Introduction HSD is a neurodegenerative disease of the basal ganglia and is characterized by extrapyramidal signs and symp- toms, mental deterioration and dementia. Both sporadic and familial cases have been reported. Diagnosis is based on clinical presentation and characteristic Magnetic Reso- nance Imaging. Case report A 6.5 year old male presented with regression of mile- stones for the past 5 years and dystonic posturing of limbs for the past 3 years. He was apparently well till 1year of age with normal psy- chomotor development. He was the product of non- consanguineous marriage with an uneventful antenatal and postnatal course. At 15 months of age he had a single episode of Generalized Tonic Clonic Seizure not associ- ated with fever. This event was followed by progressive falls during ambulation which eventually over the course of one year led to complete inability to walk. By 2.5 years of post natal age he had lost the ability to sit with support. The above events were accompanied by progressively increased tone of bilateral upper and lower limbs. At the age of 3 years he developed abnormal dystonic posturing of limbs which have subsequently led to fixed contrac- tures in bilateral lower limbs. The child had begun to speak 1-2 words by the age of 15 months gradually developed dysarthria by the age of 2 years which has since progressed to complete loss of speech. His visual acuity has also diminished over the past year and he cannot fix on a particular object. At present he has complete loss of locomotor ability, vi- sion and speech. His younger sibling who is now 3.5 years of age has also developed similar symptoms of regression of milestones and dystonic posturing for the past 8 months. The index case has been started on Levadopa. Baclofen and Trihexyphenydyl were added with no significant im- provement of his symptomatology. On examination the child was bedridden with generalized dystonia and fixed contractures of all four limbs (Figure 1). There was no evidence of Kayser Fleischer ring or Retinitis Pigmentosa. Serum Ferritin and Ceruloplasmin levels were normal. The peripheral blood picture did not reveal any acanthocytes. The MRI of the patient at the age of 3.5 years was normal. Repeat MRI done at our centre when the patient was xx years old showed hypointensity with an area of central hyperintensity in the bilateral Globus Pallidi (Eye of the Tiger Sign, Figure 2) on T2 weighted imaging. Based on the clinical and MRI findings a diagnosis of Hallevorden Spatz Disease was made. MRI of the younger sibling was performed at our centre which showed normal imaging. Discussion Hallervordan-spatz disease is a rare disorder characterized by progressive extrapyramidal dysfunction and dementia. The disease has its onset in late childhood or adolescence. The disease can be familial or sporadic, when familial; it is inherited recessively and has been linked to chromo- some 20. 1 Our case was initially treated as spastic quadriplegia of undetermined etiology. The MRI done initially at the age of 3.5 years was essentially normal and misled the clini- cians. The younger sibling of the patient has also started