Minimal Neurological Abnormalities Research Articles

Autoimmune Psychosis as a Differential Diagnosis of Primary Schizophreniform Psychosis in Children and Adolescents.

Objective: Autoimmune psychosis (AP), defined as an isolated schizophreniform psychosis with no or only minimal neurological abnormalities stemming from autoantibody-associated cerebral processes, is a very rare and potentially underdiagnosed disorder in children and adolescents. Methods: This article reports the case of a 13-year-old boy who became acutely ill with a psychotic disorder following a respiratory infection. We describe the diagnosis and course of treatment in detail. Results: Following an extensive interdisciplinary workup, a probable glutamic acid decarboxylase (GAD)-associated AP was diagnosed that ultimately remitted completely with treatment. Conclusions: Autoimmune psychoses remain a relatively uncharted territory for the specialty of child and adolescent psychiatry. Good interdisciplinary cooperation is essential for patients with somewhat atypical psychotic symptoms, both in terms of diagnosis and treatment.

Opsoclonus-Myoclonus Syndrome: A New Era of Improved Prognosis?

BackgroundOpsoclonus-myoclonus syndrome is an autoimmune neurological disorder characterized by opsoclonus, myoclonus, ataxia, and behavioral changes. Although long-term outcomes have historically been poor, including motor and cognitive disabilities, the advent of new and more aggressive immunotherapy regimens may be improving prognosis in opsoclonus-myoclonus syndrome. MethodsWe retrospectively reviewed the records of all children diagnosed with opsoclonus-myoclonus syndrome at BC Children's Hospital from 2000 to 2010. Neurological outcomes were compared with those previously reported in the literature. ResultsTwelve children with opsoclonus-myoclonus syndrome were identified, four of whom had an associated neuroblastoma. Two thirds of patients received initial treatment with a combination of corticosteroids, intravenous immunoglobulin (IVIG), and an additional immunosuppressant agent. After a median follow-up of three years from diagnosis, ten patients had no or minimal neurological abnormalities. Two patients had poor outcome with significant cognitive impairment. ConclusionsMost patients in this series were treated with early multimodal immunotherapy, and neurological outcomes were better than those in most historical reports. This finding is consistent with recent studies that suggest multimodal immunotherapy regimens may be improving the prognosis in this challenging disease. However, some individuals did well with less aggressive treatment, and further studies are required to determine optimal treatment approach.

Holocord Syrinx, Tethered Cord and Diastematomyelia: Case Report and Review of Literature

Syringomyelia refers to the presence of cavities within the spinal cord or a dilatation of the central spinal cord canal. In 90% of cases, syringomyelia is associated with a Chiari I malformation. The association of syringomyelia with tethered cord is well known but syrinxes associated with these defects are usually below vertebral level T6. Holocord syrinx associated with tethered cord is rare and is almost always associated with Chiari 1 malformation. To the best of our knowledge, only a single case report of holocord syrinx with tethered cord has been reported, but this patient had multiple overt lumbosacral defects (tethered cord, meningocele and diastematomyelia). We are reporting a three year old child with holocord syrinx with tethered cord and diastematomyelia and no evidence of Chiari malformation, meningocele or any overt spinal malformation and minimal neurological abnormalities. J Nepal Paediatr Soc 2012;32(2):169-171 doi: http://dx.doi.org/10.3126/jnps.v32i2.6098

Single-photon emission computed tomography in cirrhotic patients with minimal neurological abnormalities

Single-photon emission computed tomography in cirrhotic patients with minimal neurological abnormalities

Clinical symptoms and molecular basis of group a xeroderman pigmentosum

The molecular basis of group A xeroderman pigmentosum (XP) was investigated by Southern blot analysis of genomic DNA for allelic heterogeneity in group A XP and comparison of clinical symptoms and severity of neurological complications. As previously reported, tow group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities had different mutations, one was a homozygote for the nonsense mutation of exon 6 (XP-YK), while the other was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6 (XP-HH). The present study revealed that one typical group A XP patient with severe skin lesions and severe neurological complications also was a compound heterozygote for the splicing mutation of intron 3 and the nonsense mutation of exon 6, thus suggesting the nonsense mutation of exon 6 is not always associated with mild skin lesions nor mild neurological manifestations. Further investigation of the sensitivity to UV radiation of fibroblasts from two atypical group A XP patients (XP-YK and XP-HH) with mild skin lesions and minimal neurological abnormalities showed intermediate post-UV colony-forming ability between that of typical group A and group C XP patients. These results suggest that DNA abnormalities are not always consistent with the severity of clinical symptoms, and that mild clinical symptoms may be explained by the residual ability of the cells to repair UV-damaged DNA.

Three nonsense mutations responsible for group A xeroderma pigmentosum

The molecular basis of xeroderma pigmentosum (XP) group A was studied and 3 nonsense mutations of the XP-A complementing gene (XPAC) were identified. One was a nucleotide transition altering the Arg-228 codon (CGA) to a nonsense codon (TGA). This transition creates a new cleavage site for the restriction endonuclease HphI. of 21 unrelated Japanese XP-A patients examined, 1 (XP39OS) was a homozygote for this mutation and 3 were compound heterozygotes for this mutation and for the splicing mutation of intron 3 reported previously which is the most common mutation in Japanese patients was a creates a new cleavage site for the restriction endonuclease AlwNI. The second mutation was a nucleotide transition altering the Arg-207 codon (CGA) to a nonsense codon (TGA). A palestinian patient (XP12RO) who had severe symptoms of XP was homozygous for this mutation. The third mutation was a nucleotide transversion altering the Tyr-116 codon (TAT) to a nonsense codon (TAA). This tranversion creates a new cleavage site for the restriction endonuclease MseI. Of the Japanese patients, 2 with sever clinical symptoms had this mutant allele. One was a compound heterozygote for this mutation and for the splicing mutation, and the other was heterozygous for this mutation and homozygous for the splicing mutation. Although most XP-A patients such as XP12RO have severe skin symptoms and neurological abnormalities of the de Sanctis-Cacchione syndrome, patient XP39OS was an atypical XP-A patient who had mild skin symptoms and minimal neurological abnormalities. Our results suggest that the clinical heterogeneity in XP-A is due to different mutations in the XPAC gene. Moreover, our data indicate that almost all Japanese cases of XP-A are caused by one or more of the 3 mutations, i.e., the splicing mutation of intron 3 and the 2 nonsense mutations of codons 116 and 228. Therefore, by restriction fragment length polymorphism analysis of PCR-amplified DNA sequences using

Carbonic anhydrase inhibitors in chronic infantile hydrocephalus.

The CHILD with slowly progressive hydrocephalus who is judged not to be suitable for neurosurgical treatment is still a common neuropediatric problem. The decision to withhold surgery may be based upon advanced hydrocephalus present at birth, the presence of associated somatic defects, or the lack of neurosurgical facilities. These children, in spite of advanced hydrocephalus, may demonstrate only minimal neurological abnormalities during the first years of life. The major disability of the infant is often only the mechanical problem of supporting the enlarged head. Ultimately a variety of disabilities become evident including visual defects, cerebellar ataxia, spastic diplegia, and mental retardation. 1-3 An interesting special personality type characterized by excessive verbosity and inappropriate sociability (the cocktail party syndrome) has been considered as typical of hydrocephalic children during later development. 4 The many difficulties associated with the surgical approaches available for the treatment of hydrocephalus have stimulated efforts for medical therapy