Glutaric aciduria type I: clinical heterogeneity and neuroradiologic features

We present four patients, two pairs of siblings, with glutaric aciduria type I (GA I). All four had undetectable glutaryl-CoA dehydrogenase activity on fibroblast culture and massive urinary excretion of glutaric acid. All had serum carnitine deficiency at time of diagnosis except one patient who was diagnosed neonatally. All had a unique pattern of frontotemporal atrophy on CT. Remarkably, in both sibling pairs, one child was asymptomatic. This suggests that the biochemical markers hitherto identified with GA I do not encompass the entire scope of the metabolic or enzymatic abnormalities. Alternatively, as yet unidentified mechanisms might spare or delay the destructive process.     

Acetazolamide-responsive vestibulocerebellar syndrome: clinical and oculographic features

Five patients who presented with long-standing episodic vertigo had ocular motor signs localizing to the vestibulocerebellum. In each patient, the episodic vertigo was either abolished or markedly decreased in frequency and severity with acetazolamide therapy. In 4, other family members had identical symptoms and signs. This syndrome is 1 of the few treatable causes of chronic episodic vertigo.     

Idiopathic hypertrophic pachymeningitis: Clinical,laboratory and neuroradiologic features in China

Hypertrophic pachymeningitis is a rare chronic inflammatory disorder characterized by marked fibrous thickening of the cerebral and/or spinal dura mater. Clinical, laboratory, neuroradiologic and therapeutic data from 12 patients with idiopathic hypertrophic pachymeningitis (IHP) from our department were retrospectively studied. There were four men and eight women with a mean age of 49 ± 15.3 years, and more than half of the patients (58%) were aged 40–60 years. Headache was the most common symptom, occurring in 92% of patients. Headache improved markedly and rapidly after glucocorticoid treatment. Optic nerve involvement was noted in seven patients (58%). C-reactive protein levels increased in 80% and the erythrocyte sedimentation rate increased in 71% of patients. Three patients were positive for autoantibodies, including antinuclear antibodies (ANA), perinuclear anti-neutrophil cytoplasmic antibodies (p-ANCA), anti-cardiolipin antibodies (ACA) and rheumatoid factor (RF). Cerebrospinal fluid showed inflammatory changes, and protein levels were low to moderately elevated. MRI revealed a thickened dura in all patients, and five patients (42%) were diagnosed with sinus stenosis/occlusion. IHP is a chronic inflammatory disorder of the dura with three groups of symptoms, namely headache, cranial nerve palsy and symptoms due to sinus stenosis/occlusion. However, IHP has different features in China in that it predominantly affects women and the age of onset is younger. Sinus stenosis/occlusion is relatively common in IHP patients in China.     

Rare brain biopsy findings in a first ADEM-like event of pediatric MS: histopathologic,neuroradiologic and clinical features

Pediatric MS tends to present more often with an acute onset and a polysymptomatic form of the disease, possibly with encephalopathy and large tumefactive lesions similar to those observed in some cases of acute disseminated encephalomyelitis (ADEM), which makes it more difficult to differentiate between an explosive and severe onset of MS vs. ADEM. An ADEM-like first demyelinating event can be the first attack of pediatric MS, but international consensus definitions require two or more non-ADEM demyelinating events for diagnosis of MS. In our patient KIDMUS MRI criteria for MS (Mikaeloff et al. J Pediatr 144:246–252, 2004a; Mikaeloff et al. Brain 127:1942–1947, 2004b) were negative at first attack, but Barkhof criteria for lesion dissemination in space in adults (Barkhof et al. 120:2059–2069, 1997), Callen modified MS-criteria and Callen MS-ADEM criteria for children (Callen et al. Neurology 72:961–967, 2009a; Callen et al. Neurology 72:968–973, 2009b) were positive suggesting pediatric MS. As the clinical course was devastating with non-responsiveness upon high-dose immune modulatory therapy and due to the absence of an alternative diagnosis other than demyelinating disease brain biopsy was performed. Brain biopsy studies or autopsy case reports of fulminant pediatric MS patients are extremely rare. Histopathology revealed an inflammatory demyelinating CNS process with confluent demyelination, indicating the likelihood of a relapsing disease course compatible with an acute to subacute demyelinating inflammatory disease. This pattern was corresponding to the early active multiple sclerosis subtype I of Lucchinetti et al. (Ann Neurol 47(6):707–717, 2000).     

Fisher syndrome: clinical features, immunopathogenesis and management

Since Miller Fisher's first report in 1956, evidence has accumulated about clinical and laboratory features, immunopathogenesis and treatment of Fisher syndrome (FS). Our literature review revealed the nature of FS. It has relatively uniform clinical and laboratory features. Ophthalmoplegia, ataxia and areflexia are essential prerequisites for an FS diagnosis, but there are several clinical variants with isolated ophthalmoplegia or ataxia. The discovery of serum anti-GQ1b antibody in FS has led to breakthroughs in FS research. The antibody is thought to be a key factor in the pathogenesis of FS, the understanding of which has progressed owing to the discovery of molecular mimicry between GQ1b and the lipo-oligosaccharides of Campylobacter jejuni and Haemophilus influenzae. The lesions responsible for the clinical symptoms have been debated but are close to clarification. Hence, the pathogenesis of FS has been made much clearer, although there are still some unanswered questions.     

Recurrent Miller Fisher syndrome: clinical and laboratory features

To present two patients with Miller Fisher syndrome (MFS) recurrence after 35 and 44 years and review of the literature on recurring MFS. All identified cases with recurrent MFS were evaluated. Age, gender, clinical features of first and recurrent MFS, course of disease, laboratory findings, therapy and outcome were transformed into tables. Twenty‐eight patients (16 men, 12 women; mean age at the first episode 34 years (range 13–57 years); mean age at the latest episode 47 years (range 21–66 years) with a total of 70 MFS episodes were identified. Twenty‐one patients had a single recurrence, five patients had two recurrences, one patient had four recurrences and one patient had seven recurrences. The mean interval between attacks was 9.45 years (3 months to 44 years). In 76% of the initial episodes and in 81% of the recurrent episodes, an infectious disease preceded MFS. Additional facial and bulbar symptoms and autonomic disturbances were frequent findings. Cerebrospinal fluid (CSF) and electrodiagnostic findings were unspecific. If tested, autoantibodies against GQ1b had been positive in all episodes. In about half of the patients, immunotherapy was applied. The outcome was favourable in most patients. Recurrence of MFS is a rare quite uniform condition with a mostly favourable prognosis.     

Klippel-Feil syndrome in children: clinical features and management

A retrospective analysis of 11 children with the diagnosis of Klippel-Feil syndrome treated at the University of Minnesota Hospital over a period of 20 years is presented. The salient features of the syndrome and its associated anomalies are reviewed. Emphasis is placed on its neurological aspects, particularly the potential risks of injury to the craniocervical junction and cervical spine. Guidelines for the management of these patients are suggested.     

Clinical and neuroradiologic features of acute disseminated encephalomyelitis in children

OBJECTIVE: To identify the clinical and neuroradiologic features of acute disseminated encephalomyelitis (ADEM) in childhood. METHODS: A retrospective review was conducted of the medical records and MRI of children who presented to the Royal Children's Hospital in Melbourne with ADEM between January 1993 and December 1998. RESULTS: Of the 31 patients included in this study, 22 (71%) experienced a prodromal illness. Two patients (6%) had received hepatitis B vaccine 3 to 6 weeks before developing their illness. Symptoms and signs typically evolved over several days. Ataxia was the most common presenting feature, occurring in 20 patients (65%). MRI findings were variable, but lesions were most commonly seen bilaterally and asymmetrically in the frontal and parietal lobes. The authors found a high incidence of the corpus callosal and periventricular changes more typically associated with MS, but they also found a high rate of deep gray matter involvement (61% of patients). The use of high-dose IV methylprednisolone was usually associated with rapid recovery. Eighty-one percent of patients recovered completely, with only mild sequelae recorded in the remaining children. CONCLUSION: In the absence of a biological marker, the distinction between ADEM and MS cannot be made with certainty at the time of first presentation, but the authors suggest that a viral prodrome, early-onset ataxia, high lesion load on MRI, involvement of the deep gray matter, and absence of oligoclonal bands are more indicative of ADEM.     

Asperger's syndrome: a review of clinical features

The term Asperger's Syndrome (AS) refers to a clinical picture characterized by social isolation in combination with odd and eccentric behaviour. While the syndrome has been recognized for some time, diagnostic criteria for the disorder have not yet been established or evaluated. The objective of this paper is to describe some of the clinical features of AS. Twenty-eight children and adolescents with AS were compared to a group of psychiatric outpatients (matched on age and sex) who were also socially impaired. The AS subjects showed a range of social impairments essentially different than those seen in the control group. The sex ratio, family history, and presence of neurologic disease in some AS cases, suggest that the etiology of the disorder is similar to that in autism. The methodological limitations of the study are discussed, and a revised set of diagnostic criteria are proposed for AS.     

Wallenberg综合征的临床特点分析

目的探讨Wallenberg综合征（WS）的临床特点。方法对80例WS患者的临床资料进行分析研究。结果69例MRI阳性中66例患者为延髓梗塞所致，3例为延髓出血。患者多以眩晕、恶心、呕吐、吞咽困难、声嘶为主诉，急性起病并呈渐进性发展。除了典型的WS的症状外，还出现面瘫、肢体乏力（轻偏瘫）、复视、头痛、呃逆、面痛以及交叉性感觉障碍等症状和体征。头部磁共振成像（MRI）检查延髓病变阳性率为93．2％。结论延髓梗塞是WS的主要病因，但不是唯一原因。WS除了典型的症状和体征外，还具有非典型的临床特点。头部MRI的检查有助于WS的诊断。     

Seizures in fetal alcohol spectrum disorders: Evaluation of clinical,electroencephalographic, and neuroradiologic features in a pediatric case series

Seizures are observed with a frequency of 3–21% in children with fetal alcohol spectrum disorders (FASD). However, clinical, neuroradiologic, and electroencephalography (EEG) features are poorly described. In this study, 13 patients with FASD and epilepsy or seizures were identified retrospectively from the databases of seven Italian pediatric neurology divisions. Eleven children were affected by epilepsy, and two had at least one documented seizure. Both generalized and focal seizures were observed. EEG showed diffuse or focal epileptic activity; two children developed electric status epilepticus during sleep (ESES). Structural brain anomalies, including polymicrogyria, nodular heterotopia, atrophy, and Arnold‐Chiari type 1 malformation, were discovered in almost 50% of patients. Control of seizures was not difficult to obtain in 11 cases; one patient showed pharmacoresistant epilepsy. EEG and clinical follow‐up are recommended in children with FASD and epilepsy, since severe conditions requiring aggressive treatment, such as in ESES, may develop. Neuroradiological evaluation is warranted because several types of brain anomalies could be associated with maternal alcohol consumption during pregnancy. A PowerPoint slide summarizing this article is available for download in the Supporting Information section here .     

Parry-Romberg syndrome: Physical,clinical, and imaging features

Progressive hemifacial atrophy also known as Parry-Romberg syndrome is an acquired, slowly progressive disorder, occurring more in women, primarily affecting one side of the face, mainly characterized by unilateral atrophy, and loss of skin and subcutaneous tissues of face, muscles, and bones. Ocular and neurologic involvements are common. The possible etiology is unclear without any known cure. We report a rare case of Parry-Romberg syndrome with classical features. The clinical features, radiological imaging findings, differential diagnosis, and available treatment options are discussed in this report.Parry-Romberg syndrome (PRS), also named as progressive hemifacial atrophy is an acquired, sporadic neurocutaneous disorder that is mainly characterized by unilateral self-limited atrophy and loss of skin and subcutaneous tissue of the face.1-5 It was first reported by Parry, and then elaborated as a syndrome by Romberg.6,7 It is a slowly progressive disorder, occurring more in women, primarily affecting one side of the face, including skin, subcutaneous tissue, muscles, cartilage, and bones.1-4,6 The onset of this syndrome generally occurs in the first and second decades of life with skin changes resembling scleroderma, which is usually accompanied by this neurological effects of PRS, including seizures, migraine, trigeminal neuralgia and darkening of skin; partial seizures are the most common neurologic complication.2-4,8 Ocular involvement is common, and the most frequent manifestation is enophthalmos.2-5,9 Its origin is unclear without any known cure. Several possible causes have been postulated (encephalitis, trauma, scleroderma, vasculitis, migraine, infections, genetic and hereditary factors, autoimmunity, and so forth) but a multifactorial pathogenesis may be the first etiology.1-5,9 Possible neuroimaging findings of PRS in CT and MR imaging are; atrophy of skin and subcutaneous tissue of face, intracranial calcifications, cerebral atrophy, deep and subcortical white matter lesions, encephalomalacia, hydrocephalus, meningeal, and leptomeningeal enhancement, aneurysms, cortical thickening and dysgenesis, infarctions in the corpus callosum, and so forth.1,5,10 We describe a rare case of PRS with classical features, associated with alopecia, hyperpigmentation around the left globe and eyebrows, and unilateral asymmetric loss of subcutaneous fat in left lower leg. Our objective in presenting this particular case is to highlight the classical neurologic, skin and ocular findings of PRS with addition of subcutaneous fat loss in long extremities.     

Clinical and neuroradiologic features associated with chronicity in late-life depression.

The authors conducted a 6-year follow-up of 16 patients with late-life depression to evaluate the relationships between clinical and neuroradiologic variables and disease outcome. Patients had a comprehensive neuropsychiatric evaluation and magnetic resonance imaging (MRI) at baseline and follow-up. Eight of the 16 developed a chronic course of unremitting major depression sufficient to cause significant psychosocial impairment. Six patients with a chronic course and four patients with a non-chronic course of depression had white matter hyperintensities (WMH) on MRI at baseline. Four patients whose WMH increased in size over time developed a chronic unremitting course of depression. No patients with non-chronic depression had large areas of WMH at baseline or exhibited increased WMH size over time. Chronic depression was associated with severity of cerebrovascular risk factors, apathy, and poor quality of life. Treatment and prevention of cerebrovascular disease may improve the outcome of late-life depression.     

Absence of the septum pellucidum with porencephalia. A neuroradiologic syndrome with variable clinical expression

We studied 12 patients with absence of the septum pellucidum associated with porencephalies. Seven patients had bilateral and five apparently unilateral defects of the cerebral mantle. The clinical manifestations were relatively mild in half of the patients and limited to isolated partial seizures in one. In one case, extensive calcification was present adjacent to the defects. In two cases, the presence of a cleft was demonstrated only by magnetic resonance imaging, although it had been suspected by computed tomography in one.