Klinefelter's syndrome associated with progressive muscular atrophy simulating Kennedy's disease

Kennedy''s disease, an X-linked spinal and bulbar muscular atrophy, is characterized by loss of lower motor neurons. Mild sensory deficits, gynecomastia and infertility may be observed. Klinefelter''s syndrome is a variation of sex chromosome disorder characterized by hypogonadism, gynecomastia and azoospermia, and the most frequent karyotype is XXY. A 55-year-old man who presented with slowly progressive and diffuse neurogenic muscle atrophy without bulbar or sensory symptoms. He also had Klinefelter''s syndrome. Genetic study of Kennedy''s disease was normal. Our patient differs from those with Kennedy''s disease in the absence of bulbar and sensory symptoms. It is suggested that the X chromosome plays an important role in the biology of motor neurons.     

Chronic Spinal Epidural Hematoma Related to Kummell's Disease

Chronic spinal epidural hematoma related to Kummell''s disease is extremely rare. An 82-year-old woman who had been managed conservatively for seven weeks with the diagnosis of a multi-level osteoporotic compression fracture was transferred to our institute. Lumbar spine magnetic resonance images revealed vertebral body collapse with the formation of a cavitary lesion at L1, and a chronic spinal epidural hematoma extending from L1 to L3. Because of intractable back pain, a percutaneous vertebroplasty was performed. The pain improved dramatically and follow-up magnetic resonance imaging obtained three days after the procedure showed a nearly complete resolution of the hematoma. Here, we present the rare case of a chronic spinal epidural hematoma associated with Kummell''s disease and discuss the possible mechanism.     

Leber's Hereditary Optic Neuropathy with Olivocerebellar Degeneration due to G11778A and T3394C Mutations in the Mitochondrial DNA

Background

Leber''s hereditary optic neuropathy (LHON) is a mitochondrial disorder with optic nerve atrophy. Although there are no other associated neurological abnormalities in most cases of LHON, cases of "LHON plus" have been reported.

Case Report

The proband was a 37-year-old man who had visual and gait disturbances that had first appeared at 10 years of age. He showed horizontal gaze palsy, gaze-evoked nystagmus, dysarthria, and cerebellar ataxia. Brain and orbit MRI disclosed atrophy of the optic nerve and cerebellum, and degenerative changes in the bilateral inferior olivary nucleus. Mutational analyses of mitochondrial DNA identified the coexistence of heteroplasmic G11778A and homoplasmic T3394C mutations.

Conclusions

These results suggest that the combination of G11778A and T3394C mutations leads to an atypical LHON phenotype.     

Three cases of syphilitic optic atrophy--its clinical features and significance

Three cases of syphilitic optic atrophy were reported. All 3 cases showed progressive deteriorations of visual acuity, and visual field defects associated with central scotoma. Following optic nerve atrophy, two of them developed the signs and symptoms related to spinal cord involvements, which were considered to be early development of tabes dorsalis clinically. After the introduction of penicillin into the therapy of syphilis, especially neurosyphilis, it has been said that this disease is markedly decreased in incidence, and its clinical features are changed. However, there are some reports stating that neurosyphilis might be still prevalent and more atypical forms of neurosyphilis has been encountered. The incidence of syphilitic optic atrophy is still rare, and there is no difference between its' incidence in old and recent reports. From our recent experience and review of the literatures, it is proposed that we should never forget the existence of syphilis in differential diagnosis of optic nerve atrophy.     

Chronic meningitis with multiple cranial neuropathies: A rare initial presentation of Wegener's granulomatosis

Wegener''s granulomatosis (WG) is a systemic necrotizing vasculitis that affects the small blood vessels. It mainly affects the upper and lower respiratory tract and kidneys. Central nervous system (CNS) involvement is rare, and has been reported only in about 8% of cases during the course of illness. Initial presentation with neurologic affection, particularly chronic hypertrophic meningitis is very unusual. We report the case of a 34 year old male who presented with chronic hypertrophic meningitis and multiple cranial nerve involvement as the initial manifestation, without respiratory and renal symptoms. This case highlights the difficulties in diagnosing a rare disease with rarer presentation, and at the same time illustrates that Wegener''s granulomatosis should be considered in the differential diagnosis of chronic meningitis.     

A Case of Biopsy-proven Early-onset Alzheimer's Disease with Hemiparkinsonism

Patients with dementia and concomitant parkinsonism are frequently encountered in the elderly population. When it comes to young adults, however, coexistence of Alzheimer''s disease (AD) and Parkinson''s disease (PD) is rare. We described a case of 47-year old man with presenile onset dementia associated with hemiparkinsonism involving the right extremities. Brain biopsy showed neurofibrillary tangles and neuritic plaques, compatible with Alzheimer''s disease. Iodine-123 labelled N-(3-iodopropen-2-yl)-2beta-carbomethoxy-3beta-(4-chlorophenyl) tropane ([(123)I]IPT) SPECT, dopamine transporter imaging, revealed a decreased uptake in both basal ganglia, more severe on the left side, particularly the caudal putamen, which is consistent with the finding of idiopathic Parkinson''s disease. This case is unique in that damage on the nigrostriatal dopaminergic system in a patient with Alzheimer''s disease was demonstrated by a functional neuroimaging study and that early-onset AD and early-onset PD, two rare conditions, coexist in the same individual.     

Large Ossified Rathke's Cleft Cyst - A Case Report and Review of the Literature -

We report a rare case of symptomatic Rathke''s cleft cyst with thick calcified wall. Brain CT scans revealed a large cystic mass with round thick calcified wall. In this case, we selected the pterional approach instead of transsphenoidal approach due to the possibility of cystic craniopharyngioma. Histopathologically, it was calcified Rathke''s cleft cyst with focal epithelial metaplasia. This case illustrates that calcification of the suprasellar cyst does not always suggest craniopharyngioma and the calcification pattern of Rathke''s cleft cyst is different from that of the craniopharyngioma.     

Hydrocephalus due to Membranous Obstruction of Magendie's Foramen

We report a case of non communicating hydrocephalus due to membranous obstruction of Magendie''s foramen. A 37-year-old woman presented with intracranial hypertension symptoms caused by the occlusion of Magendie''s foramen by a membrane probably due to arachnoiditis. As far as the patient''s past medical history is concerned, an Epstein-Barr virus infectious mononucleosis was described. Fundoscopic examination revealed bilateral papilledema. Brain magnetic resonance imaging demonstrated a significant ventricular dilatation of all ventricles and turbulent flow of cerebelospinal fluid (CSF) in the fourth ventricle as well as back flow of CSF through the Monro''s foramen to the lateral ventricles. The patient underwent a suboccipital craniotomy with C1 laminectomy. An occlusion of Magendie''s foramen by a thickened membrane was recognized and it was incised and removed. We confirm the existence of hydrocephalus caused by fourth ventricle outflow obstruction by a membrane. The nature of this rare entity is difficult to demonstrate because of the complex morphology of the fourth ventricle. Treatment with surgical exploration and incision of the thickened membrane proved to be a reliable method of treatment without the necessity of endoscopic third ventriculostomy or catheter placement.     

Paraneoplastic cerebellar degeneration in Hodgkin's lymphoma

Paraneoplastic cerebellar degeneration (PCD) is a rare disorder presenting typically with acute or subacute severe cerebellar ataxia. PCD is most commonly associated with small cell lung cancer followed by adenocarcinoma of breast and ovary, and Hogdkin''s lymphoma. We report a case of a 54-year-old male with acute-onset pancerebellar syndrome with underlying Hodgkin''s lymphoma. A high index of suspicion of PCD resulted in arriving at an early diagnosis of underlying Hodgkin''s disease. The patient was managed with six cycles of chemotherapy, which resulted in clinical stabilization and reversal of magnetic resonance imaging abnormalities. Antitumor therapy appears to have a significant impact on reversing PCD and hence early diagnosis and intervention for the primary remains the corner stone in stabilizing the neurological condition.     

Complete Cord Injury after Minimal Trauma in a Patient with Forestier's Disease Accompanying Ossification of the Posterior Longitudinal Ligament

Forestier''s disease is a systemic rheumatological abnormality in which exuberant ossification occurs along ligaments throughout the body, but most notably the anterior longitudinal ligament of the spine. This disease is usually asymptomatic; however dysphagia, dyspnea, and peripheral nerve entrapment have all been documented in association with the disorder. We report a rare case of catastrophic neurologic damage caused by Forestier''s disease accompanying ossification of the posterior longitudinal ligament.     

Delayed Bone Cement Displacement Following Balloon Kyphoplasty

We report a rare case of delayed cement displacement after balloon kyphoplasty in patient with Kümmell''s desease. A 78-year-old woman with Kümmell''s desease at T12 level received percutaneous balloon kyphoplasty. Two months after surgery, the patient complained of progressive severe back pain. Computed tomographic scans revealed a breakdown of the anterior cortex and anterior displacement of bone cement. Although this complication is very rare, it is likely to occur in treatment of Kümmell''s desease accompanying anterior cortical defect.     

Malignant syndrome in Parkinson's disease without dopaminergic drug withdrawal

Malignant syndrome is a rare complication occurring during the course of drug treatment for Parkinson''s disease. It resembles neuroleptic malignant syndrome and is characterized by fever, marked rigidity, altered consciousness, leucocytosis and elevated creatine kinase. Malignant syndrome is a potentially fatal condition and awareness of this condition is imperative for prevention and treatment. The commonest precipitating factor is dopaminergic drug withdrawal or dose reduction. We report malignant syndrome (precipitated by hyponatremia) in a case of Parkinson''s disease, in the absence of dopaminergic drug withdrawal. A 60-year-old man presented with fever, severe rigidity and altered sensorium following repeated vomiting. On investigation, he was found to have hyponatremia precipitated malignant syndrome. Treatment with hydration, cooling, correction of hyponatremia and dopaminergic drugs reversed his condition. The triad of fever, severe rigidity and altered sensorium should prompt evaluation for malignant syndrome in Parkinson''s disease.     

Infantile neuro-axonal dystrophy: anatomo clinical study of one case (author's transl)]

A case of Seitelberger's infantile neuroaxonal dystrophy (a rare familial neurologic disease of childhood) is described. The clinical picture is characterized by a progressive deterioration of psychomotor functions leading to flaccid paraplegia with hypotonia of axial muscles, complete involution of language, and total loss of communication with the external world; death due to recurrent unassociated disease occurred at the age of 4 years. Histology showed numerous axonal spheroids mainly in the gray matter of the C.N.S. and plurisystemic degenerations of the motor and sensory systems, of the cerebellum, of the basal ganglia, and of specific sensory system such as the optic and (reported here for the first time) of the olfactory and acoustic systems. In particular, the main histopathological findings included: 1) a characteristic distribution of axonal swellings prevailing in the posterior horn of the spinal cord and in the dorsolateral portions of the medulla oblongata, mainly at the level of the sensory nuclei; 2) demyelinization of the pyramidal tracts and of the ascendings pathways of the sensory system with fibrillar gliosis and myelin breakdown products in some areas (internal capsule, pes pedunculi, VPL thalamic nuclei); 3) severe cerebellar atrophy with almost complete loss of granule and Purkinje cells and marked fibrillary gliosis; 4) presence of enormous amount of sudanophilic lipids in the striatum and pallidum; 5) optic, acoustic and olfactory system degeneration with demyelinization and gliosis at all levels examined and, in particular, sudanophilic lipid deposition in the optic radiations, trigone, and olfactory striae. The discussion emphasized the dying-back type of evolution of the degenerative process insofar as a) the spheroids represent a peculiar alteration of presynaptic endings (as demonstrated by electron microscopy) prevailing at the first sensory neuron, and b) in all systems involved, the degeneration is most marked at distal levels. The striato-pallidal lipophanerosis suggests that the sudanophilic lipids are, here as in other systems, parenchymal degeneration products. On the other hand, there are still many unresolved problems in this rare and complex disease, such as a) the predilection of the lesions for the sensory systems which in our case involved all three special senses; b) the extreme cerebellar atrophy; and c) the etiopathogenetic substrate of the process. All biochemical and histochemical studies have not yielded any results up to the present.     

Use of the Putamen/Caudate Volume Ratio for Early Differentiation between Parkinsonian Variant of Multiple System Atrophy and Parkinson Disease

Background and purpose

Neuropathological studies have demonstrated that multiple system atrophy (MSA) produces selective atrophy of the putamen with sparing of the caudate nucleus, while both structures are spared in idiopathic Parkinson''s disease (PD). In this study we evaluated the clinical efficacy of using putaminal atrophy in brain MRI to differentiate MSA and PD.

Methods

We measured the putamen/caudate volume ratio on brain MRI in 24 patients with MSA and 21 patients with PD. Two clinicians who were blinded to the patients'' diagnoses and to each other''s assessments measured the volume ratio using a computer program.

Results

The measured volume ratios of the two investigators were highly correlated (r=0.72, p<0.0001). The volume ratio was significantly lower in MSA (1.29±0.28) than PD (1.91±0.29, p<0.0001). Setting an arbitrary cutoff ratio of 1.6 resulted in about 90% of patients with MSA falling into the group with a lower ratio, whereas more than 80% of patients with PD belonged to the other group.

Conclusions

The present results demonstrate that putaminal atrophy in MSA as measured on brain MRI represents an effective tool for differentiating MSA from PD.     

Giant somatosensory evoked potentials in a patient with the anterior spinal artery syndrome

We studied a previously healthy 25-year-old woman with the anterior spinal artery syndrome, a rare thoracocervical myelopathy with multiple potential etiologies. Quantitative and clinical sensory examination showed dissociated loss of pin-prick and temperature discrimination below the level of the lesion, with normal light touch, vibratory, and position sense. Magnetic resonance imaging was consistent with cervical spinal cord infarction. Median SEPs showed normal Erb's potential with absent spinal N—₁₃ and normal scalp N—₂₀ latency. Tibial SEPs showed normal lumbosacral responses and normal scalp P—₃₀ latency. Both median and tibial nerve stimulation produced cortical responses of unusually large amplitude (median 38 m?V, tibial 17 m?V). We hypothesize that large SEP amplitudes in this patient resulted from loss of anterolateral inhibitory influences on the dorsal column–medial lemniscal system. © 1993 John Wiley & Soncs, Inc.     

Complete Separation of the Vertebral Body Associated with a Schmorl's Node Accompanying Severe Osteoporosis

A Schmorl''s node is defined as a simple endplate intravertebral herniation resulting from trauma or idiopathic causes. Although Schmorl''s nodes have been considered clinically insignificant, they might indicate an active symptomatic process or cause serious complications. In this study, we report an interesting case of complete separation of a vertebral body caused by an untreated Schmorl''s node accompanying severe osteoporosis. To our knowledge, this is the first clinical report in the published literature to evaluate the complete separation of a vertebral body associated with a Schmorl''s node.     

Involvement of Peripheral and Central Nervous Systems in a Valosin-Containing Protein Mutation

Background

Inclusion-body myopathy with Paget''s disease of the bone and frontotemporal dementia (IBMPFD) is a rare, late-onset autosomal disorder arising from missense mutations in a gene coding for valosin-containing protein.

Case Report

We report the case of a man carrying the previously described p.Arg159His mutation, who had an unusual axonal sensorimotor neuropathy as the first clinical manifestation of IBMPFD, and for whom diagnosis only became clear 8 years later when the patient developed frontotemporal dementia.

Conclusions

Peripheral neuropathy is a rare manifestation of IBMPFD. This underdiagnosed disorder should be considered when a patient develops dementia or has signs of Paget''s disease.     

Atypical Wernicke's syndrome sans encephalopathy with acute bilateral vision loss due to post-chiasmatic optic tract edema

A middle aged male presented with acute bilateral vision loss, 4 weeks after undergoing gastric bypass surgery for gastric carcinoma. He had normal sensorium, fundoscopy, normal pupillary reaction to light, but had mild opthalmoparesis and nystagmus with ataxia. Magnetic resonance imaging of the brain revealed post-chiasmatic optic tract edema along with other classical features of Wernicke''s syndrome. Thiamine supplementation leads to complete resolution of clinical as well as imaging findings. In appropriate clinical settings, a high index of suspicion and early treatment are essential for managing Wernicke''s syndrome even in patients with atypical clinical and imaging presentation.     

Spinal cord demyelination associated with biotinidase deficiency in 3 Chinese patients

Biotinidase deficiency is a treatable cause of severe neurological disorders and skin problems. Spinal cord impairment is a rare complication of this disease and is commonly unrecognized. The authors encountered 3 Chinese patients with progressive spinal cord demyelination associated with biotinidase deficiency. Case 1 exhibited fatigue, proximal muscular weakness, and hypotonic paraplegia from the age of 7 years 4 months. Demyelination of cervical and thoracic cord was evident on magnetic resonance imaging (MRI). Case 2 developed visual impairment, blepharoconjunctivitis, and optic nerve atrophy from 5 years of age, which combined with progressive hypertonic paralysis, ataxia, and alopecia from the age of 7 years. His spinal MRI T2-weighted sequence revealed an extensive hyperintense lesion involving the cervical spinal cord C(2) to C(4). Bilateral optic nerves were significantly thick. In case 3, intercurrent wheezing, tachypnea, dyspnea, and lethargy occurred from the age of 1 year. Medulla and upper cervical spine edema and demyelination were found on MRI. Markedly elevated urine organic acids and decreased blood biotinidase activities were observed in the 3 patients. Biotin supplementation led to a dramatic improvement of clinical symptoms in 3 patients. The findings indicate that biotinidase deficiency should be considered in the differential diagnosis of unexplained spinal cord demyelination because prompt diagnosis and treatment with biotin may enable an excellent recovery.     

Eosinophilic Granuloma Presenting as an Epidural Hematoma and Cyst

Langerhans'' cell histiocytosis (LCH) is a rare immunologic disorder characterized by histiocyte proliferation in multiple organ systems. Eosinophilic granuloma, a benign bone lesion, represents a focal form of LCH. We experienced a case of Langerhans'' cell histiocytosis in a patient who presented with intracranial epidural hematoma and cyst on the midline of the frontal skull. A 10-year-old boy presented with a rapidly growing large scalp mass on the midline frontal area after mild head trauma. The scalp mass was painless and immobile. Plain skull x-ray showed a punched-out bone lesion. Computed tomography and magnetic resonance imaging showed a non-enhancing osteolytic lesion presenting with an epidural hematoma and cyst on the midline of the frontal skull. The lesion of the skull was completely resected and the patient''s recovery was uneventful. The acute presentation of a solitary eosinophilic granuloma of skull with an epidural hematoma has been described in only five cases in the literature and we report the first case of LCH presenting as an intracranial epidural hematoma on frontal area.