Neurological Recovery with Interferon-gamma Treatment in Friedreich's Ataxia

Friedreich's ataxia (FA) is a rare, progressive, and degenerative hereditary disorder caused by a deficiency of frataxin protein. This disease is characterised by severe neurological dysfunction and life-threatening cardiomyopathy. Various drugs are used to slow down / stop the neurodegenerative progress. However, recent clinical trials and animal experiments demonstrate that interferon- gamma (IFN-?) treatment might improve signs of FA as well. A 9-year-old girl was admitted to our hospital with gait instability, mild dysarthria, and sensorimotor polyneuropathy. Her genetic examination was consistent with FA. IFN-? treatment was started 3 times a week. The treatment was evaluated by physical examination and side effects assessment. Friedreich Ataxia Rating Scale (FARS), 9- hole peg test (9HPT), and time of 25-foot walk (T25FW) were measured. Ataxia and cerebellar findings improved within 9 months. Although clinical neurological improvement was achieved, there was no improvement in cardiomyopathy. © 2022 College of Physicians and Surgeons Pakistan. All rights reserved

A rare central nervous system tumor of childhood with spongiform appearance on brain magnetic resonance imaging; primary diffuse leptomeningeal oligodendrogliomatosis [Un raro tumor del sistema nervioso central de la infancia con apariencia espongiforme en la resonancia magnética cerebral; oligodendrogliomatosis leptomeníngea difusa primaria]

2-s2.0-85100396296Primary diffuse leptomeningeal oligodendrogliomatosis is a rare fatal tumor of childhood. Symptoms usually occur when the tumor causes hydrocephalus. Brain magnetic resonance imaging (MRI) may be nearly normal in the early stages of the disease, while hydrocephalus and multiple leptomeningeal cysts with spongiform appearance may appear later on. One may consider the diagnosis when radiologic findings become apparent with multiple leptomeningeal cysts. However, failure to recognize the imaging findings due to the rarity of the disease may delay the diagnosis. Here, we report a 3.5-year-old girl who presented with ataxia and vomiting and had a diagnosis of primary diffuse leptomeningeal glioneuronal tumor with remarkable brain MRI findings as diffuse multiple tiny cystic lesions on the brain and spinal cord. She benefited from radiotherapy and temozolomide treatment with remission of brain MRI findings. Increasing the number of reported cases will enable the elucidation of the disease's pathogenesis and the development of treatment protocols. © 2021 Sociedad Española de Neurocirugí

Extreme delta brush activity: Could it be a marker for early diagnosis and prognosis of anti-nmda (n-methyl-d-aspartate) encephalitis? [Aşırı delta brush aktivitesi anti-nmda (N-metil-d-aspartat) ensefalitinde erken tanı ve prognoz için bir belirteç olabilir mi?]

2-s2.0-85088966607Autoimmune encephalitis should be excluded in unexplained en-cephalitis. A significant portion of autoimmune encephalitis in childhood is anti-NMDA encephalitis. However, neuroimaging and routine diagnostic tests are inadequate, diagnosis sholud be confirmed by the demonstration of autoantibodies. The treatment may be delay in this process. Extreme delta brush waves are unique electroencephalography pattern, seen in some of An-ti-NMDA encephalitis, useful for early diagnosis. Extreme delta brush activity is associated with prolonged hospitalization and illness. Despite of these, the specificity and sensitivity of this pattern is not-known clearly. We present a five years old boy with the loss of consciousness, involuntary movements, intermittant gen-eralized tonic clonic seizures and extreme delta brush activity in electroencephalography. © 2019 by Turkish Pediatric Association

Aicardi syndrome: A rare neurological disease: Case report [Aicardi Sendromu: Nadir Görülen Bir Nörolojik Hastalik]

Aicardi syndrome is a severe congenital genetic disorder characterised with X-linked dominant inheritance, infantile spasms, agenesis of corpus callosum, ocular abnormalities predominantly chorioretinal lacunae and mental motor retardation. Recently it is well recognized that several other important findings added to Aicardi syndrome. This syndrome occurs almost exclusively in females and diagnosis is currently based on clinical presentation. The first problem that a child with Aicardi syndrome generally develops is seizure. This always starts in the first six months of life, sometimes shortly after birth, and resistant to antiepileptic drugs. Electroencephalography, magnetic resonance imaging findings and ophthalmoscopy are helpful in diagnosis of Aicardi syndrome. Here in we present three cases that are diagnosed Aicardi syndrome with on-going seizures. © 2015 by Türkiye Klinikleri

Broadening the phenotype of DFNB28: Mutations in TRIOBP are associated with moderate, stable hereditary hearing impairment

Contains fulltext : 174528.pdf (publisher's version ) (Closed access)DFNB28 is characterized by prelingual, severe to profound sensorineural hearing impairment (HI). It is associated with mutations in exon 6 and 7 of TRIOBP and has not been reported in the European population. Here, we describe two isolated cases of Dutch origin with congenital, moderate HI and compound heterozygous mutations in TRIOBP. Three of the mutations are novel, one nonsense mutation (c.5014G>T (p.Gly1672*)) and two frameshift mutations (c.2653del (p.Arg885Alafs*120) and c.3460_3461del (p.Leu1154Alafs*29)). The fourth mutation is the known c.3232dup (p.Arg1078Profs*6) mutation. Longitudinal audiometric analyses in one of the subjects revealed that HI was stable over a period of 15 years. Vestibular function was normal. Predicted effects of the mutations do not explain the relatively mild phenotype in the presented subjects, whereas location of the mutation might well contribute to the milder HI in one of the subjects. It is known that isoform classes TRIOBP-4 and TRIOBP-5 are important for stereocilia stability and rigidity. To our knowledge, p.Gly1672* is the first pathogenic variant identified in DFNB28 that does not affect isoform class TRIOBP-4. This suggests that a single TRIOBP copy to encode wildtype TRIOBP-4 is insufficient for normal hearing, and that at least one TRIOBP copy to encode TRIOBP-5 is indispensable for normal inner ear function. Furthermore, this study demonstrates that DFNB28 can be milder than reported so far and that mutations in TRIOBP are thus associated with a heterogeneous phenotype