Acquired amegakaryocytic thrombocytopenia (AAT) is a hematologic disorder that presents as thrombocytopenia with absent megakaryocytes in the bone marrow. Causes of AAT include toxins, drugs, viral infections, systemic lupus erythematosus, and cytokine deficiencies. Patients with AAT should be followed for possible progression to aplastic anemia or myelodysplastic syndrome. We present ...

2011 has been a special year for hemolytic uremic syndrome (HUS): on the one hand, the dramatic epidemic of Shiga toxin producing E. coli -associated HUS in Germany brought the disease to the attention of the general population, on the other hand it has been the year when eculizumab, the ...

Four unrelated patients having an unusual clinical phenotype, including multiple peripheral nerve sheath tumors, are reported. Their clinical features were not typical of any known familial tumor syndrome. The patients had multiple painful neurofibromas, including bilateral orbital plexiform neurofibromas, and spinal as well as mucosal neurofibromas. In addition, they exhibited ...

Overdrainage in hydrocephalus therapy is a common shunt complication responsible for many different side effects. Especially an association with an impairment of upper brainstem structures causing symptoms of a dorsal midbrain syndrome (DMS) has already been described. Yet apart from these known mesencephalic lesions, we found several more brainstem signs ...

A 29-year-old female developed diplopia, nasal voice and gait disturbance after an upper respiratory infection. On admission, she presented with bilateral external ophthalmoplegia, slight bilateral facial nerve palsy, dysarthria, dysphagia, cervical and brachial muscle weakness, ataxia and areflexia. She had serum anti-GT1a, anti-GQ1b and anti-galactocerebroside IgG antibodies. She was diagnosed ...

Ulnar neuropathy coexistent with distal radioulnar joint (DRUJ) instability has previously been observed in our practice. The aim of this study was to define this phenomenon and investigate the hypothesis that the cause of this intermittent, positional ulnar neuropathy is related to kinking of the ulnar nerve about the DRUJ. ...

Polyneuropathy, organomegaly, endocrinopathy, M protein, skin changes (POEMS) syndrome is a rare multisystem disorder associated with plasma cell dyscrasia whose main neurological feature is a demyelinating polyneuropathy. The aim of our study was to assess the pattern of ultrasound (US) nerve abnormalities in POEMS syndrome patients. Eight POEMS syndrome patients ...

Lemierre syndrome is characterized by pharyngotonsillitis that is typically secondary to Fusobacterium necrophorum infection and causes adjacent septic thrombophlebitis and thrombosis with subsequent metastatic abscesses. A 3-year-old boy presented with fever, tonsillar enlargement, and bilateral otomastoiditis with purulent discharge. Physical examination revealed abducens nerve palsy on the left side, with ...

Möbius syndrome is a rare congenital disorder characterized by bilateral facial nerve palsy and abducens nerve palsy. It is associated with a wide spectrum of systemic and ocular manifestations; esotropia is commonly the reason for ophthalmic referral. There are few published studies in the literature on strabismus surgery in Möbius ...

We report a case of Donnai-Barrow syndrome in a 2-year-old boy who presented with exotropia and prominent eyes since birth. Ocular findings included high myopia, persistent pupillary membrane, and optic nerve hypoplasia. Facial manifestations included broad nasal bridge, hypertelorism, and downward-slanting of palpebral fissures. The patient had associated omphalocele, sensorineural ...

Supraclavicular nerve entrapment syndrome, although rare, should be considered among the causes of anterior shoulder girdle pain. This syndrome is usually related to anatomic variants (involving the bone structures, fibrous bands, or muscles and tendons). Computed tomography is the most useful investigation. Medications used to treat neuropathic pain may provide ...

PURPOSE: Patients with Ramsay Hunt syndrome have a poorer prognosis than those with Bell palsy despite the use of various treatment modalities. We compared the clinical characteristics, treatment methods, and outcomes in patients with Ramsay Hunt syndrome and Bell palsy. MATERIALS AND METHODS: Patients with Ramsay Hunt syndrome were compared ...

Ramsay Hunt syndrome is a rare complication of the varicella zoster virus, defined as a peripheral facial palsy that typically results from involvement of the facial and auditory nerves. Ramsay Hunt syndrome can be associated with cranial nerves V, VI, IX, and X but rarely with XII. We describe an ...

The authors report an unusual case of flexor tenosynovitis, severe carpal tunnel syndrome, and triggering at the carpal tunnel as the first manifestation of gout. A 69-year-old man presented with digital flexion contracture and severe carpal tunnel syndrome of his right hand and was treated surgically. A flexor tenosynovectomy and ...

ABSTRACT: Parry-Romberg syndrome or progressive facial hemiatrophy is a rare clinical entity of an unknown etiology. We present the case of a 57-year-old Chinese woman with Parry-Romberg syndrome and hemifacial spasm both on the right side. Its association was not reported before. In our report of Parry-Romberg syndrome with hemifacial ...

INTRODUCTION: Missed compartment syndrome can have devastating long-term impact on a patient's function. Femoral fracture has been reported in 52-58% of acute thigh compartment syndromes in the existing literature. Time to diagnosis of compartment syndrome is cited as a key determinant of outcome. Use of femoral nerve blocks in splinting ...

The Ramsay-Hunt syndrome is the association of facial palsy and varicella-zoster virus infection with involvement of the ear canal and eardrum. It may be associated with deafness, tinnitus and dizziness. It can sometimes affect the lower cranial nerves. A case of an immunocompetent patient with affectation of the VII, VIII ...

Carpal tunnel syndrome, resulting from median nerve compression at the wrist, is a common and often disabling mononeuropathy. Risk factors include female sex, family history, repetitive hand use, obesity, pregnancy and a variety of medical comorbidities including diabetes mellitus, rheumatoid arthritis, and other connective tissue diseases. In many cases, an ...

More than a century ago, Ortner described a case of cardiovocal syndrome wherein he attributed a case of left vocal fold immobility to compression of the recurrent laryngeal nerve by a dilated left atrium in a patient with mitral valve stenosis. Since then, the term Ortner's syndrome has come to ...

PURPOSE: We aimed to investigate the efficacy of diffusion tensor imaging in the diagnosis of carpal tunnel syndrome and to obtain a quantitative parameter that may contribute to the diagnosis. MATERIALS AND METHODS: The median nerves in 57 wrists of 38 patients diagnosed as carpal tunnel syndrome and 30 wrists ...

Aim: To investigate the relationship between clinical mast cell activity and primary headache syndromes. Methods: We surveyed individuals with systemic mastocytosis, an uncommon disorder associated with increased mast cell activity. Diagnoses of primary headache syndromes in addition to the relationship of headache and symptoms of mastocytosis were ascertained. Results: A ...

We investigated the median nerve deformation in the carpal tunnel in patients with carpal tunnel syndrome and controls during thumb, index finger, middle finger, and a four finger motion, using ultrasound. Both wrists of 29 asymptomatic volunteers and 29 patients with idiopathic carpal tunnel syndrome were evaluated by ultrasound. Cross-sectional ...

Macrodystrophia lipomatosa (MDL), a rare congenital disorder, is considered by some to be a localized form of Proteus syndrome. The implication of the PTEN (phosphatase and tensin homolog deleted on chromosome 10) gene in both strengthens this belief. We present a case who had MDL in multiple nerve territories-all on ...

ABSTRACT: A 43-year-old man with POEMS syndrome (polyneuropathy, organomegaly, endocrinopathy, monoclonal gammopathy, and skin changes), including long-standing optic disc swelling, had sudden painless vision loss in the left eye. Brain MRI revealed an intracranial mass adjacent to the left optic nerve and enhancement of the optic nerve. The mass decreased ...

A couple of the most common complications after anterior cervical spine surgery are dysphagia and hoarseness. This is often related to recurrent laryngeal nerve palsy and it can also be caused by injury to the branches of the lower cranial nerves. In general, Tapia syndrome is combined injuries of the ...

Guillain-Barré syndrome (GBS) is well known as presenting with acute immune-mediated polyneuropathies, with strong associations with antecedent infections. Several variant forms of GBS have been described, including acute inflammatory demyelinating polyneuropathy, acute motor axonal neuropathy, acute motor-sensory axonal neuropathy, and sensory GBS. We present a rare case of 2-year-old boy ...

The association of unilateral trochlear nerve palsy with Claude Bernard-Horner syndrome represents a rare clinical condition. We present the case of a patient with this unusual presentation. The investigation performed implicated cerebrovascular disease as the underlying cause of the condition in this patient.

A 57-year-old man with a history of more than 10 years of bronchial asthma and chronic sinusitis complained of double vision which developed 18 days after cardiac tamponade with eosinophil-rich fluid (eosinophils 30%). He had oculomotor nerve palsy, and a blood test revealed eosinophilia (12,700/mm(3)) and elevation of both C-reactive ...

Cryoglobulins are immunoglobulins that precipitate in vitro at temperatures less than 37°C and produce organ damage through two main pathways: vascular sludging (hyperviscosity syndrome, mainly in type I cryoglobulinaemia) and immune-mediated mechanisms (principally vasculitis, in mixed cryoglobulinaemia). Cryoglobulinaemia is associated with many illnesses, which can be broadly grouped into infections, ...

The electrodiagnosis of Guillain-Barré syndrome (GBS) can be broadly divided into acute inflammatory demyelinating polyneuropathy (AIDP) and acute motor axonal neuropathy (AMAN). Fisher syndrome (FS) is a variant of GBS, although the underlying neuropathy of FS has yet to be established. Serial nerve conduction studies (NCS) can provide further insight ...

This report describes 2 symptomatic patients with phrenic nerve palsy due to Parsonage-Turner syndrome who were managed by diaphragmatic plication. The characteristics of the underlying syndrome are defined.

Marin-Amat syndrome is a synkinesis which develops following facial nerve palsy and manifests as an involuntary eyelid closure when the jaw is opened. We presented 2 patients with Marin-Amat syndrome. One patient developed this syndrome after Bell palsy and the other after cross-facial nerve graft and free functional muscle transfer. ...

Purpose: To report a case of a patient with optic nerve involvement in neuro-Sweet syndrome and review the literature on this systemic disease. Methods: Interventional case report and review of the literature. Results: A 49-year-old man developed an acute exacerbation of bilateral panuveitis and optic disc edema together with symptoms ...

The syndrome of cerebellar ataxia with bilateral vestibulopathy was delineated in 2004. Sensory neuropathy was mentioned in 3 of the 4 patients described. We aimed to characterize and estimate the frequency of neuropathy in this condition, and determine its typical MRI features. Retrospective review of 18 subjects (including 4 from ...

Polyneuropathy, organomegaly, endocrinopathy, M protein and skin changes (POEMS) syndrome is a rare multi-system disease. We describe the ultrasonography (US) and color Doppler ultrasonography (CDUS) findings of peripheral neuropathy in a patient with POEMS syndrome. In US examination, peripheral nerves were found to be diffusely thickned in both upper limbs. ...

We have recently developed an animal model of fibromyalgia syndrome in the rat. In this model, rats exposed to unpredictable sound stress develop a delayed onset enhancement and prolongation of cytokine-induced mechanical hyperalgesia in muscle and skin. In this study, we tested the hypothesis that our model also manifests symptoms ...

Involvement of cranial nerves is not uncommon in leprosy with trigeminal and facial nerves being commonly affected. Other cranial nerves can also be involved especially in longstanding cases of leprosy towards the lepromatous pole. Herein, we report a case of leprosy with multiple cranial neuropathy mimicking Melkerson Rosenthal syndrome.

The in vitro cardiac and vascular pharmacology of Malo maxima, a newly described jellyfish suspected of causing Irukandji syndrome in the Broome region of Western Australia, was investigated in rat tissues. In left atria, M. maxima crude venom extract (CVE; 1-100μg/mL) caused concentration-dependent inotropic responses which were unaffected by atropine ...

Guyon's canal syndrome is a compression neuropathy of the ulnar nerve entrapment at the wrist. Compression of the ulnar nerve at the wrist by a ganglion, lipomas, diseases of the ulnar artery, fractures of the hamate and trauma are common etiologcal factors. Unlike Guyon's canal syndrome, carpal tunnel syndrome (CTS) ...

The LEW/Ztm-ci2 rat is an animal model for syndromal deafness that arose from a spontaneous mutation. Homozygous animals show locomotor abnormalities like lateralized circling behavior. Additionally, an impaired vision can be observed in some animals through behavioral studies. Syndromal deafness as well as retinal degeneration are features of the Usher ...

Peripheral neuropathy is characterized as a generalized, relatively homogeneous process affecting many peripheral nerves and predominantly affecting distal nerves. The epidemiology of peripheral neuropathy is limited since the disease presents with varying etiology, pathology, and severity. Toxic, inflammatory, hereditary, and infectious factors can cause damage to the peripheral nerves resulting ...

Carpal tunnel syndrome is the most common nerve entrapment in the upper limb and carpal tunnel release (CTR) provides the most predictable outcome and relief of symptoms. Incomplete carpal tunnel releases are uncommon, however, in the event of incomplete surgical releases, symptoms following such incomplete releases tend to be more ...

Alleviating opiate withdrawal syndrome in addicts is a critical precondition to break away from drug and further to prevent reuse. Electroacupuncture (EA) was claimed to be effective for alleviating withdrawal syndrome, but the optimal protocol remained unclear. In the present study we found that (1) 100Hz EA administered 12-24h after ...

This paper was designed to study metabonomic characters of the 'Kidney-Yang Deficiency syndrome' induced by high dose of hydrocortisone and the therapeutic effects of Rhizoma Drynariae, classic traditional Chinese medicine (TCM) in treating the syndrome. A urinary metabonomics method based on ultra-performance liquid chromatography coupled with mass spectrometry (UPLC/MS) was ...

Decompressive tarsal tunnel surgery may improve dysfunctional plantar foot sensation in, patients with tarsal tunnel syndrome and peripheral neuropathy. However, quantitative sensory, assessment is lacking. Quantitative sensory threshold evaluation of 42 feet in 37 consecutive (29 non-diabetic and 8 diabetic) patients was done before and after surgical decompression for tarsal ...

Nicolau syndrome (also known as embolia cutis medicamentosa and livedoid dermatitis) is a rare but severe localized adverse drug reaction of intramuscular injection of various drugs. The typical presentation is pain around the injection site soon after injection, followed by erythema, livedoid patch, hemorrhagic patch, and finally necrosis of skin, ...

Proteus syndrome is a rare overgrowth disorder that almost always affects the skin. Our purpose was to evaluate progression of skin lesions in patients with Proteus syndrome. Skin findings were documented in 36 patients with Proteus syndrome. Progression of skin lesions in 16 of these patients was assessed by comparing ...

To examine the nature and psychosocial correlates of skin-picking behavior in youth with Prader-Willi Syndrome (PWS). Parents of 67 youth (aged 5-19 years) with PWS were recruited to complete an internet-based survey that included measures of: skin-picking behaviors, the automatic and/or focused nature of skin-picking, severity of skin-picking symptoms, anxiety ...

Stevens-Johnson syndrome is a severe mucocutaneous disease following drugs or infections. We present a 7-year-old boy with mucous membrane lesions (stomatitis, conjunctivitis, and urethritis) but without skin lesions. The diagnosis of acute Mycoplasma pneumoniae infection strongly suggests a concomitant Fuchs syndrome.

Staphylococcal scalded skin syndrome (SSSS) is a blistering disease of the skin caused by an infection with certain strains of Staphylococcus aureus. In vitro studies have suggested that exfoliative toxins secreted by these bacteria cleave the desmosomal adhesion molecule desmoglein 1 leading to loss of cell-cell contact in the superficial ...