Orphan diseases are not a common challenge in the everyday practice of the rheumatologist. Despite their extremely rare occurrence one of the patients under our care developed one of them - neuronal ceroid lipofuscinosis, the most frequent neurodegenerative disease observed in the paediatric population. We report a case of 2-year-old girl diagnosed with oligoarticular form of juvenile idiopathi...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Objectives: To determine the prevalence of cerebellar Ataxia in patients with hypothyroidism. Materials and Methods: The design this study was cross sectional conducted Shaheed Mohtarma Benazir Bhutto Medical University, Larkana. This duration 6 months from July 2022–Dec 2022. Total 13 hypothyroidism were enrolled. Routine blood investigation Thyroid Function Tests done for all patients. MRI or...

OBJECTIVE Spinocerebellar ataxias are neurodegenerative disorders involving the cerebellum and its connections. There are more than 30 distinct subtypes, 16 of which are associated with an identified gene. The aim of the current study was to evaluate a large group of patients from 104 Brazilian families with spinocerebellar ataxias. METHODS We studied 150 patients from 104 families with spino...

Ataxia can be classified according to the onset into episodic, acute, intermittent and chronic ataxia. Acute ataxia in children is caused by CNS tumors, trauma, CNS infection, toxins, metabolic causes or stroke. Recurrent ataxia can be due to metabolic causes, seizures, basilar artery migraine or toxins. Chronic ataxia is usually the result of hereditary ataxia, CNS tumors, congenital anomalies...

Idiopathic hypertrophic pachymeningitis (IHPM) is a rare pathological state, with still unclear aetiopathogenesis. We present a case of a 63-year-old woman with cranial variety of that disease. The manifestations of the disease included headaches, paresis of VI, IX, X nerves and cerebellar ataxia. The disease was diagnosed with magnetic resonance imaging (MRI) and histopathological assessment o...

Spinocerebellar ataxia type 3, spinocerebellar ataxia type 6 and Friedreich's ataxia are common hereditary ataxias. Different patterns of atrophy of the cerebellar cortex are well known. Data on cerebellar nuclei are sparse. Whereas cerebellar nuclei have long been thought to be preserved in spinocerebellar ataxia type 6, histology shows marked atrophy of the nuclei in Friedreich's ataxia and s...

The spinocerebellar ataxia recessive type 10 is a genetic form associated with ANO10 gene mutations. Affected individuals present ataxia, hyperreflexia, ocular movement disorders and cerebellar atrophy. homozygous variant in the NP_060545.3:p.Asn114* 2-nucleotide deletion that would cause introduction of premature stop codon at same position, has not been previously described scientific literat...