A proposal clinical classification and a diagnostic approach for the congenital ataxias

2020 ◽  
pp. 10.1212/CPJ.0000000000000966
Author(s):  
Ivana Rocha Raslan ◽  
Orlando G. Barsottini ◽  
José Luiz Pedroso
Keyword(s):  
Differential Diagnosis ◽  
Cerebral Palsy ◽  
Clinical Features ◽  
Neurological Disorders ◽  
Medical Literature ◽  
Diagnostic Approach ◽  
Cerebellar Hypoplasia ◽  
Clinical Classification ◽  
Pontocerebellar Hypoplasia

ABSTRACTPurpose of review:This review proposes a clinical classification for the congenital ataxias based on clinical features, neuroimaging and course of the disease.Recent findings:Congenital ataxias are an unusual group of neurological disorders, with heterogeneous clinical and genetic presentation. Typical clinical features of the congenital ataxias include variable degrees of motor developmental delay, very early onset cerebellar ataxia, cognitive impairment and hypotonia, frequently mistakenly diagnosed as cerebral palsy. Congenital ataxias are usually non-progressive. Neuroimaging plays an important role in characterization of the congenital ataxias. Despite development of genetics with exome sequencing, several congenital ataxias remain undetermined, and medical literature on this topic is scarce.Summary:A didactic classification based on clinical and neuroimaging features for the congenital ataxias includes four main groups: cerebellar malformation, syndromic congenital ataxias, congenital cerebellar hypoplasia and pontocerebellar hypoplasia. A diagnostic approach for the congenital ataxias is proposed, and their differential diagnosis are also discussed.

scholarly journals Sex-Linked Hereditary Ataxic Diplegia, the Borderland Between Cerebral Palsy and Pelizaeus-Merzbacher Disease

1974 ◽  
Vol 1 (4) ◽  
pp. 226-235 ◽  
Author(s):  
H.G. Dunn ◽  
Margaret W. Thompson ◽  
Elizabeth Bandler ◽  
L.G. Andrews
Keyword(s):  
Differential Diagnosis ◽  
Cerebral Palsy ◽  
Mental Retardation ◽  
Neurological Disorders ◽  
Congenital Nystagmus ◽  
Review Of The Literature ◽  
Biochemical Tests ◽  
Extrapyramidal Features ◽  
Successive Generations ◽  
Pelizaeus Merzbacher Disease

SUMMARY:After a review of the literature concerning hereditary cases of cerebral palsy, a family is reported in which ataxic diplegia appears to be inherited as a sex-linked and probably recessive condition occurring in 3 males in successive generations. This ataxic diplegia, occurring after an unremarkable perinatal course, is associated with mild to moderate mental retardation, congenital nystagmus and significantly small stature and prevents the acquisition of free walking. Associated extrapyramidal features may gradually become more marked, while the nystagmus may subside. The condition is similar to that described in three previous reports in the literature. No evidence of linkage with other sex-linked disorders has been found, Xga typing showed that recombination between the Xg locus and the locus for hereditary ataxic diplegia has occurred once out of three possible opportunities. In the absence of neuropathological findings or specific biochemical tests, the differential diagnosis from Pelizaeus-Merzbacher disease cannot be made with certainty. The differentiation from other progressive sex-linked neurological disorders is discussed.

A review of pruritus in pregnancy

2021 ◽  
pp. 1753495X2098536
Author(s):  
Meghan Rudder ◽  
Emily G Lefkowitz ◽  
Tereda Ruhama ◽  
Elnaz Firoz
Keyword(s):  
Quality Of Life ◽  
Differential Diagnosis ◽  
Pregnant Women ◽  
Clinical Features ◽  
Practical Approach ◽  
Clinical Classification ◽  
Underlying Disorder ◽  
In Pregnancy

Pruritus is a common dermatologic complaint during pregnancy. Pruritus is reported by 23–38% of women during pregnancy, and 2% report severe pruritus. In addition to interfering with sleep and reducing overall quality of life during pregnancy, pruritus may be the first, or only, symptom of an underlying disorder that may impact maternal and fetal outcomes. It is therefore critical for all providers caring for pregnant women to be familiar with pregnancy-specific and non-specific conditions associated with pruritus to most effectively manage this unique population. In this review, we discuss clinical classification of pruritus, a practical approach to the differential diagnosis of pruritus in pregnancy, and focus on updates in the clinical features, diagnosis, management, and prognosis of pregnancy-specific causes of pruritus.

Reconsidering NMIHBA Core Features: Macrocephaly Is Not a So Unusual Sign in PRUNE1-Related Encephalopathy

2020 ◽  
Author(s):  
Roberta Battini ◽  
Enrico Bertini ◽  
Roberta Milone ◽  
Chiara Aiello ◽  
Rosa Pasquariello ◽  
...  
Keyword(s):  
Nervous System ◽  
Differential Diagnosis ◽  
Clinical Features ◽  
Neurodevelopmental Disorder ◽  
Recurrent Mutation ◽  
Clinical Suspicion ◽  
Alexander Disease ◽  
Brain Anomalies ◽  
Progressive Encephalopathy ◽  
Core Features

Abstract PRUNE1-related disorders manifest as severe neurodevelopmental conditions associated with neurodegeneration, implying a differential diagnosis at birth with static encephalopathies, and later with those manifesting progressive brain damage with the involvement of both the central and the peripheral nervous system.Here we report on another patient with PRUNE1 (p.Asp106Asn) recurrent mutation, whose leukodystrophy, inferior olives hyperintensity, and macrocephaly led to the misleading clinical suspicion of Alexander disease. Clinical features, together with other recent descriptions, suggest avoiding the term “microcephaly” in defining this disorder that could be renamed “neurodevelopmental disorder with progressive encephalopathy, hypotonia, and variable brain anomalies” (NPEHBA).

First Presentation of an Acquired Demyelinating Syndrome

2017 ◽  
Vol 16 (03) ◽  
pp. 164-170
Author(s):  
Rachel Gottlieb-Smith ◽  
Amy Waldman
Keyword(s):  
Multiple Sclerosis ◽  
Central Nervous System ◽  
Nervous System ◽  
Differential Diagnosis ◽  
Optic Neuritis ◽  
Clinical Features ◽  
Neuromyelitis Optica ◽  
Transverse Myelitis ◽  
Acute Disseminated Encephalomyelitis ◽  
The Central Nervous System

AbstractAcquired demyelinating syndromes (ADS) present with acute or subacute monofocal or polyfocal neurologic deficits localizing to the central nervous system. The clinical features of distinct ADS have been carefully characterized including optic neuritis, transverse myelitis, and acute disseminated encephalomyelitis. These disorders may all be monophasic disorders. Alternatively, optic neuritis, partial transverse myelitis, and acute disseminated encephalomyelitis may be first presentations of a relapsing or polyphasic neuroinflammatory disorder, such as multiple sclerosis or neuromyelitis optica. The clinical features of these disorders and the differential diagnosis are discussed in this article.

scholarly journals Neuralgias of the Trigeminal Nerve

2000 ◽  
Vol 5 (1) ◽  
pp. 107-113 ◽  
Author(s):  
Allan S Gordon
Keyword(s):  
Neuropathic Pain ◽  
Differential Diagnosis ◽  
Trigeminal Neuralgia ◽  
Clinical Features ◽  
Trigeminal Nerve ◽  
Postherpetic Neuralgia ◽  
Facial Pain ◽  
The Other ◽  
Atypical Facial Pain ◽  
Trigeminal Neuropathic Pain

Practitioners are often presented with patients who complain bitterly of facial pain. The trigeminal nerve is involved in four conditions that are sometimes mixed up. The four conditions - trigeminal neuralgia, trigeminal neuropathic pain, postherpetic neuralgia and atypical facial pain - are discussed under the headings of clinical features, differential diagnosis, cause and treatment. This article should help practitioners to differentiate one from the other and to manage their care.

EFFECTS OF ASPHYXIATION OF THE FETUS AND THE NEWBORN INFANT

PEDIATRICS ◽  
1960 ◽  
Vol 26 (4) ◽  
pp. 565-569
Author(s):  
William F. Windle
Keyword(s):  
Cerebral Palsy ◽  
Mental Retardation ◽  
Newborn Infant ◽  
Clinical Evaluation ◽  
Neurological Disorders ◽  
Basic Information ◽  
Clinical Experiences ◽  
Asphyxia Neonatorum

There is pressing need of well controlled clinical evaluation of the role of adverse factors in the prenatal, natal and early postnatal periods in the etiology of neurological disorders. This is particularly true of asphyxia neonatorum. Many articles have been written on relationships between apnea, anoxia or asphyxia and manifestations of mental retardation, cerebral palsy, epilepsy and othe neurological, psychological and behavioral defects. The majority of the writers express opinions, but give no evidence that data were collected. Controls are commonly lacking. Often no attempt to measure the variables appears to have been made. A review1 of more than 500 reports, commentaries and testimonials of clinical experiences reveals deficiency in basic information of physiology of the fetus and newborn that is nothing short of appalling.

scholarly journals Incidence of epilepsy among patients with cerebral palsy

2006 ◽  
Vol 41 (4) ◽  
pp. 202
Author(s):  
Pertin Sianturi ◽  
Amir Sarifuddin ◽  
Bistok Saing
Keyword(s):  
Cerebral Palsy ◽  
Neurological Disorders ◽  
Medical Records ◽  
Common Complication ◽  
Cerebral Function ◽  
Partial Seizures ◽  
Chi Square ◽  
Prolonged Seizure ◽  
High Incidence ◽  
Chi Square Test

Epilepsy is a chronic condition due to cerebral function disorders. Epilepsy occurs as a common complication of many neurological disorders such as cerebral palsy (CP) that can affect further brain damage especially if they are with prolonged seizure. The incidence of epilepsy among patients with CP varies between 25-35%. The high incidence of epilepsy among patients with CP suggests that this disorder has common or related origins. We carried out the retrospective study to determine incidence of epilepsy among patients with CP registered within July 1988 to June 1998 in YPAC Medan and to determine whether the incidence of epilepsy differed according to type of CP. Data were compiled from medical records, including name, sex, parity, mothers age, prenatal, perinatal, and postnatal history, and EEG results. Data were analyzed using statistical computer program and its significance was evaluated by chi square test at p < 0,05. There were 67 cases with CP, 53 cases spastic CP, 13 cases mixed CP and one case dyskinetic CP. Of the 67 cases CP, 47,8% male, 52,2% female and mean age 50,3 (SD 36,9) months. There were 25 (37,3%) patients CP associated with epilepsy, 72% general seizures, 20% partial seizures, and 8% infantile spasms. The incidence of epilepsy was significant different among patients with CP associated with type of CP and gestasional age, p < 0,05. We concluded that incidence of epilepsy among patients with CP in YPAC Medan was 37,3% and significantly different among patients with CP according to type CP and gestasional age.

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