Intracranial calcification, retinopathy, and osteopenia: a new syndrome?

We describe two brothers with bilateral exudative retinopathy, intracranial calcifications, a sclerotic bony disorder, and normal intelligence. The younger brother also has osteopenia, mild splenomegaly, and pancytopenia. We review the literature with emphasis on the unique features of these patients.     

Febrile convulsions, ataxia, developmental delay, and obesity: a new syndrome?

We describe the association of recurrent complicated febrile convulsions, developmental delay, ataxia, and obesity in three unrelated girls. The three girls, aged 3 to 4 years, were all born to healthy, nonconsanguineous parents and have normal siblings. Their birth weight was appropriate for gestational age. They are not dysmorphic and have normal head circumference. Development is delayed; they all walked with an ataxic gait after the age of 2 years and started speaking at 3 years. Their growth charts are remarkably alike: they initially had a normal growth curve and around 24 months of age started to gain weight excessively. They all continue to suffer from complicated febrile seizures, which started before 12 months of age, and are resistant to prophylactic anticonvulsants. Metabolic evaluation is normal. They have normal magnetic resonance images and electroencephalograms. Fragile X and Prader-Willi syndromes were ruled out. We suggest that this is a new mental retardation syndrome that should be considered in children with recurrent febrile convulsions, developmental delay, and obesity. In a recent study, mutations in the beta4 calcium channel were identified in the mutant epileptic mouse that presents with epilepsy, mental retardation, and ataxia. We hypothesize that a calcium channel gene may be involved in this syndrome.     

Conversion,dissociative amnesia,and Ganser syndrome in a case of “chameleon” syndrome: Anatomo-functional findings

The term “chameleon” was first used in the seventeenth century by Sydenham to describe a patient with a protean semiology. We report a single case of “chameleon” syndrome that challenges the current international criteria for somatoform disorders, dissociative amnesia, and Ganser syndrome. The florid symptoms were as follows: anterograde and retrograde amnesia (including semantic, episodic, and procedural deficits), loss of identity, atypical neuropsychological impairment (approximate answers), left sensitive and motor deficit, and left pseudochoreoathetosis movement disorders. Additional behavioral disorders included the following: anxiety, clouded consciousness, hallucinations, and “belle indifference”. A single photon emission computed tomography examination showed bilateral temporal, frontal and a right caudate (in the head of the caudate nucleus) hypoperfusion concordant with a common mechanism of repression in these disorders.     

Horner’s syndrome,Pseudo-Horner’s syndrome,and simple anisocoria

This discussion reviews the common causes of Horner’s syndrome, with emphasis on case reports from the past several years. Much of the recent literature concerns the use of apraclonidine as a diagnostic test for Horner’s syndrome, possibly as an alternative for the current gold standard of cocaine eye drops. This new literature is discussed in the context of the current standards for clinical diagnosis.     

Hikikomori, is it a culture-reactive or culture-bound syndrome? Nidotherapy and a clinical vignette from Oman

Hikikomori, a form of acute social withdrawal, is becoming a silent epidemic in Japan. As it has not been reported from other parts of the world, hikikomori fulfills the criteria for "a culture-bound syndrome." We report a case from Oman, in the southern part of Arabia, with all the essential features of hikikomori. We speculate that the social environment of Japanese and Omani society could reinforce behavior akin to hikikomori although this condition may also transcend geography and ethnicity.     

Accelerometer-determined physical activity and walking capacity in persons with Down syndrome,Williams syndrome and Prader–Willi syndrome

In this study we describe by use of accelerometers the total physical activity (PA), intensity pattern and walking capacity in 87 persons age 16–45 years with Down syndrome (DS), Williams syndrome (WS) and Prader–Willi syndrome (PWS). Participants were recruited from all over Norway, and lived either with their parents or in community residences with support.On average the participants generated 294 counts per minute (cpm) or 6712 steps per day, with most of the day spent in sedentary activity, 522 min/day, followed by 212 min/day in light PA, 71 min/day in lifestyle activity and 27 min/day in moderate-to-vigorous physical activity (MVPA). Inactivity was prevalent, as only 12% meet the current Nordic recommendations for PA.When compared, no differences for total physical activity or time in MVPA were observed between the three groups. However, participant with DS spent a mean of 73 min/day less and 43 min/day less in sedentary activities compared to participants with PWS and WS, respectively, (p = 0.011, 95% CI: ?10.9; ?80.1). In addition the DS-group spent a mean of 66 min/day more in light PA than the PWS-group and 41 min/day more than the WS-group, (p < 0.001, 95% CI: 29.3; 79.7). Participants with PWS spent on average 30 min/day less in lifestyle activities compared to both participants with DS and WS, (p < 0.001, 95% CI: ?14.2; ?45.4). No association between total PA and BMI were observed. Males were more active than females across all diagnoses. Males accumulated on average 85 counts per minutes more than females, (p = 0.002, 95% CI: 33.3; 136.7), 2137 more steps per day, (p = 0.002, 95% CI: 778; 3496). The mean walking capacity during six-minutes was 507 m (SD 112 m) for males and 466 m (SD 88 m) for females. Distance walked during testing decreased with 33.6 m when comparing normal or underweight participants to overweight participants, and 78.1 m when comparing overweight to obese participants (p < 0.001 95% CI: ?40.4; ?85.8). When adjusted for BMI no differences in walking capacity between the three genetic conditions were observed.     

XY sex reversal and a nonprogressive neurologic disorder: a new syndrome?

We report a patient with a unique combination of clinical findings: XY sex reversal, spastic paraplegia, mental retardation, dysmorphism, and infantile-onset olivopontocerebellar hypoplasia. The phenotype of our patient did not coincide with any of the described forms of XY reversal syndromes, hereditary or sporadic spastic paraplegias, or congenital or infantile-onset cerebellar or olivopontocerebellar atrophies or hypoplasias. The disorder of this patient likely represents a genetic condition with pleiotropic effects on brain development and sex determination and adds further evidence for the heterogeneity of spastic paraplegia/infantile olivopontocerebellar hypoplasia syndromes and sex reversal syndromes.     

Multiple pterygium syndrome, bilateral periventricular nodular heterotopia and epileptic seizures--a syndrome?

We present the clinical, neurophysiological and radiographic findings in a boy with coexisting multiple pterygium syndrome, bilateral periventricular nodular heterotopia (BPNH), mental retardation and epileptic seizures. This constellation has not been previously reported. We discuss the possibility of a new BPNH syndrome associated with multiple pterygium syndrome in our patient.     

Clinical features, pathogenesis, and treatment of Guillain-Barré syndrome

Guillain-Barré syndrome (GBS) is an important cause of acute neuromuscular paralysis. Molecular mimicry and a cross-reactive immune response play a crucial part in its pathogenesis, at least in those cases with a preceding Campylobacter jejuni infection and with antibodies to gangliosides. The type of preceding infection and patient-related host factors seem to determine the form and severity of the disease. Intravenous immunoglobulin (IVIg) and plasma exchange are effective treatments in GBS; mainly for practical reasons, IVIg is the preferred treatment. Whether mildly affected patients or patients with Miller Fisher syndrome also benefit from IVIg is unclear. Despite medical treatment, GBS often remains a severe disease; 3-10% of patients die and 20% are still unable to walk after 6 months. In addition, many patients have pain and fatigue that can persist for months or years. Advances in prognostic modelling have resulted in the development of a new and simple prognostic outcome scale that might also help to guide new treatment options, particularly in patients with GBS who have a poor prognosis.     

Nationwide survey of childhood Guillain-Barré syndrome,Fisher syndrome,and Bickerstaff brainstem encephalitis in Japan

ObjectiveGuillain-Barré syndrome (GBS), Fisher syndrome (FS), and Bickerstaff brainstem encephalitis (BBE) are immune-mediated neuropathies presenting with symptoms such as weakness, ophthalmoplegia, ataxia, and consciousness disturbances. Although the epidemiology of GBS and BBE in patients of all ages has been reported, childhood data have not been well-investigated. We aimed to determine the clinical features, therapeutics, and prognoses of childhood GBS, FS, and BBE in Japan.MethodsWe sent questionnaires to 1068 pediatric neurologists in Japan from 2014 to 2016 to determine the number of children less than 15 years old with GBS, FS, or BBE and their age and sex. We subsequently performed a secondary survey to investigate the clinical features, laboratory data, treatment, and prognosis.ResultsFive-hundred thirty-eight pediatric neurology specialists (50.4%) responded to the first survey. The total number of children with GBS, FS, and BBE in Japan from 2014 to 2016 were 87, 10, and 6, respectively. GBS was classified as acute inflammatory demyelinating neuropathy (35.6%), acute motor axonal neuropathy (20.7%), or acute motor-sensory axonal neuropathy (10.3%), with a male-to-female ratio of 1.29:1.0 and a wide distribution of onset ages. The disease severities of GBS, FS, and BBE were variable, but all children could walk within one year.ConclusionThe prognoses of childhood GBS, FS, and BBE were generally favorable, as long as the patient was promptly treated with either intravenous immunoglobulin or plasma exchange.     

Motor and somatosensory conversion disorder: a functional unawareness syndrome?

Although conversion disorder is closely connected to the origins of neurology and psychiatry, it remains poorly understood. In this article, the authors discuss neural and clinical parallels between lesional unawareness disorders and unilateral motor and somatosensory conversion disorder, emphasizing functional neuroimaging/disease correlates. Authors suggest that a functional-unawareness neurobiological framework, mediated by right hemisphere-lateralized, large-scale brain network dysfunction, may play a significant role in the neurobiology of conversion disorder. The perigenual anterior cingulate and the posterior parietal cortices are detailed as important in disease pathophysiology. Further investigations will refine the functional-unawareness concept, clarify the role of affective circuits, and delineate the process through which functional neurologic symptoms emerge.     

Demyelinating neuropathy and Sjögren's syndrome: a diagnostic pitfall

INTRODUCTION: Neuropathies induced by Sj?gren's syndrome (SS) are usually axonal. Nevertheless some demyelinating neuropathies have been described in patients with SS. To date, the relationship between demyelinating neuropathies and SS remains imprecise. CASE REPORT: A 75 year-old man presented with a chronic history of sensory disturbances linked to demyelinating neuropathy. Electroneuromyography revealed a demyelinating neuropathy and complementary tests revealed both Sj?gren's syndrome (SS) and HMSN IA. CONCLUSION: We suggested that an inherited affection might be researched before considering that demyelinating neuropathy might be a form of peripheral nervous system involvement in SS.     

Mozart's movements and behaviour: a case of Tourette's syndrome?

In this review, we intend to explore the often asked question: “Did Mozart have Tourette''s syndrome?” Although there are numerous reports attributing Mozart''s peculiar personality and behaviour to a spectrum of neurobehavioural disorders such as Tourette''s syndrome, autistic disorder, Asperger''s syndrome, attention deficit hyperactivity disorder, obsessive–compulsive disorder and paediatric autoimmune neuropsychiatric disorders associated with streptococcal infection, the evidence for any of these disorders is lacking. Whether Mozart''s behaviour was nothing more than a reflection of his unique personality or a more complex neurological disorder, aggravated later in life by enormous demands by his father and society, his behaviour has been the subject of many biographies. It will also remain unknown to what extent his accomplishments and failures were shaped by his childhood experiences, pressured lifestyle, and his innate genius and extraordinary talent. Lessons from his life may have important implications for other gifted individuals and savants whose special attributes may lead them to succeed or, on the other hand, suppress their emotional growth and make them more vulnerable to stress and failure.The 250th anniversary of the birth of one of the greatest musical geniuses of all times, Wolfgang Amadeus Mozart (1756–1791), provides an opportunity not only to reflect on his immeasurable contributions to the world of classical music, but also to examine him as a man of exceptional creative power. Mozart''s biographical accounts often comment on his peculiar behaviour which has been interpreted by some as a manifestation of an underlying neurobehavioural disorder, such as Tourette syndrome (TS). Once considered a rare psychiatric curiosity, TS is now recognised as a relatively complex neurobehavioural disorder, affecting approximately 2% of the general population.^1,2 Some studies have suggested that TS affects up to 3.8% of children, and two‐thirds of them have coexistent attention deficit hyperactivity disorder (ADHD), obsessive–compulsive disorder (OCD) or other behavioural comorbidities.³ Although learning disabilities have been suggested to be present in some patients with TS,^4,5 most reach their full potential without any residual psychiatric or neurological handicap. Many notable figures, such as Dr Samuel Johnson, have made extraordinary contributions to the arts and sciences despite, or perhaps because of, their TS.⁶ Several reports have drawn attention to the observation that some TS patients possess unique talents and skills, similar to individuals with autism and savant syndrome.^7,8 Various structural and functional imaging studies of brains of musicians have found that in contrast with non‐musicians, the musicians'' brains tend to have increased gray matter in Broca''s area and in certain portions of the auditory cortex, such as the Heschl''s gyrus and planum temporale.^9,10 Studies of developmental and acquired disorders of musical listening and interpretation have shown that brain plasticity is involved in musical perceptions and integration with cognitive and emotional responses,¹¹ and that music could have both evocative and suppressive effects on some patients with movement disorders such as TS and parkinsonism.¹²Although many individuals with unique talents have been carefully studied, no unified theory has emerged to explain the neurological basis of such exceptional creative or interpretive abilities, as demonstrated by some people with autism or some savant artists. It is beyond the scope of this review to discuss the neurobiology of savant and the reader is referred to other sources,^13,14 but the brain mechanisms giving rise to savant‐like features may be relevant to the understanding of the neurobiology of a genius mind, such as that of Mozart. Whether savant is more frequently observed in patients with TS or whether some savant cases manifest features of TS, such as tics and OCD, has not been systematically studied.Insanity and exceptional musical talent have often been thought to be linked, but the mechanism of this relationship is unknown.¹⁵ As an example, David Helfgott, a prodigious pianist featured in the movie “Shine,” has been thought to suffer from a mild form of schizophrenia with positive symptoms. He grunts, mutters, sings, talks to himself very loudly and exhibits other tic‐like mannerisms as he plays.¹⁶ Creativity has often been associated with bipolar disorder and some composers, artists, authors and other creative geniuses of the past have observed loss of their creative talents with pharmacological treatment of their bipolar disorder. Vincent van Gogh, who committed suicide at the age of 37 years, in the last few years of his life suffered from episodes of mania and depression. Despite the mood swings and mental torment, he completed more than 300 of his best paintings, suggesting that his manic state may have facilitated his creativity.¹⁷ There is a lengthy list of other famous figures such as Ludwig von Beethoven, Robert Schumann, Peter Ilyich Tchaikovsky, Sergei Rachmaninoff, Ernest Hemingway, Leo Tolstoy, Jonathan Swift, Oliver Cromwell, Abraham Lincoln, Theodore Roosevelt, John Nash, Nikolai Gogol, Edgar Allan Poe and many more who have suffered from a variety of mental or personality disorders.^15,18,19 Besides Samuel Johnson and Mozart, many celebrities such as Howard Hughes, Marc Summers, David Beckham, Tim Howard, Jim Eisenreich, Chris Jackson (Mahmoud Abdul‐Raul), David Aldridge, Michael Wolff, Dan Ackroyd, Howie Abdul‐Rauf Mandel and Mel Gibson are among those thought to manifest some features of TS and its comorbidities, particularly OCD.^16,20,21     

Physical training and fatigue, fitness, and quality of life in Guillain-Barré syndrome and CIDP

Many patients with Guillain-Barré syndrome (GBS) and chronic inflammatory demyelinating polyneuropathy (CIDP) experience excessive fatigue, which may persist for years and reduce quality of life. The authors performed a 12-week study of bicycle exercise training in 20 patients with severe fatigue, 16 with relatively good recovery from GBS, and 4 with stable CIDP. Training seemed well tolerated, and self-reported fatigue scores decreased 20% (p = 0.001). Physical fitness, functional outcome, and quality of life were improved.