This review of the differential diagnosis of amyotrophic lateral sclerosis focuses on two themes. The first is practical, how to establish the diagnosis based primarily on clinical findings buttressed by electrodiagnosis. The main considerations are multifocal motor neuropathy and cervical spondylotic myelopathy. The second theme is the relationship of motor ...

Supernumerary teeth (hyperdontia) are relatively common in the general population and occur more frequently in patients with a family history of such teeth. Supernumerary teeth have been reported in many genetic syndromes, but multiple supernumerary teeth occurring as an isolated non-syndromic trait are rare. This article describes a rare non-syndromic ...

PURPOSE: To alert ophthalmologists to POEMS syndrome as an unusual cause of optic disk swelling. METHOD: Case report. A 25-year-old white woman developed scotomata and optic disk swelling, and systemic signs and symptoms of POEMS syndrome. RESULTS: Bone marrow biopsy disclosed multiple myeloma. Despite treatment with corticosteroids, radiation, and marrow ...

The authors report a case of Lhermitte-Duclos disease, or dysplastic cerebellar gangliocytoma, in which a cutaneous sclerotic fibroma was found incidentally during the second resection of a recurrent cerebellar hamartoma. The association of Lhermitte-Duclos disease and sclerotic fibroma with Cowden's syndrome led to a dermatologic examination and confirmation of the ...

A rare variant of mirror hand is described. The hand had eight fingers and the forearm contained an ulna and a hypoplastic radius. A classification of the mirror hand-multiple hand spectrum is offered and its embryology discussed.

OBJECTIVE: To report a new association between polyglandular autoimmune syndrome and multiple endocrine neoplasia. METHODS: We present a detailed case report and discuss the various types of polyglandular failure and multiple endocrine neoplasia. RESULTS: A 56-year-old woman with a past history of primary hypothyroidism and impaired glucose tolerance was admitted ...

The syndrome of Birt-Hogg-Dubè (BHD) is an autosomal dominant syndrome, characterized by a triad of cutaneous lesions including multiple fibrofolliculomas, trichodiscomas, and acrochordons. There are many clinical expressions, solitary and multiple forms, with or without other skin tumors. In the literature BHD syndrome has been associated with internal malignancy. We ...

Multiple synostoses syndrome is an autosomal dominant disorder characterized by premature onset of joint fusions, which initially affect the interphalangeal joints, by characteristic facies, and by deafness. We performed linkage analysis on a large Hawaiian family with multiple synostoses syndrome. Because another autosomal dominant disorder, proximal symphalangism, shares some clinical ...

We report a patient with Shy-Drager syndrome who developed multiple tense blisters mainly on the extremities. Circulating anti-basement membrane zone autoantibodies were detected by the indirect immunofluorescence method. Immunoblot analysis using normal human epidermal extracts demonstrated that this patient's serum reacted only with 230 kD bullous pemphigoid antigen (BPAG1). Concerning ...

We report on a family of seven affected with a new syndrome of multiple deep schwannomas, multiple nevi (both intradermal and compound types), and multiple leiomyomas of the vagina. Inheritance is dominant, whether autosomal or X-linked cannot be determined at this time. The nevi, which are congenital, appear to be ...

Multiple endocrine neoplasia type 1 (MEN-1) is an inherited syndrome which is characterized by the occurrence of neoplastic lesions in the parathyroids, the pancreas, duodenum, anterior pituitary and, less commonly, also in the stomach, thymus and lung. Its genetic defect has recently been identified and appears to involve a new ...

Paroxysmal positional vertigo (PPV) is the peripheral vertiginous syndrome that is most frequently encountered in clinical practice. It is characterised by paroxysmal vertiginous attacks that are triggered by head movements and last no more than a few seconds, and is often accompanied by nausea and vomiting. The aim of this ...

PURPOSE: To report the association of an orbital osteoma with Gardner's syndrome (familial polyposis coli leading to carcinoma, multiple osteomas and skin and soft tissue tumours). METHOD: A review of patient records. RESULTS: A 29-year-old male with known Gardner's syndrome presented with long-standing right proptosis due to an osteoma of ...

Autoimmune polyglandular syndrome may complicate pregnancy and be confused with hyperemesis gravidarum as a cause of hypoglycemia and electrolyte imbalance in the first trimester of pregnancy. Autoimmune polyglandular syndromes are uncommon disorders characterized by the development and presentation of multiple endocrine and organ dysfunction. To our knowledge, we present the ...

A case of "Dandy-Walker Syndrome" with secondary Generalised tonic clonic seizures and post-ictal psychosis is reported in a 33 year old man. The venthculo-pehtoneal shunt procedure, carried on 3 years back has failed to bring down the seizure frequency. Electrophysiological and neuropsychological investigation suggest impairment in left temporal lobe.

An unusual case of Maffucci's syndrome confined to an extremity with an additional superficial lymphangioma in the same limb is described. The patient, a 47-year-old woman, presented with several painful subcutaneous spindle cell hemangioendotheliomas (SCHs) and multiple lytic bone lesions, some calcified, in the left leg. She has been followed ...

We report a 9-year-old boy affected by LEOPARD syndrome, who also had ichthyosis, axillary freckling, two café au lait spots, and one neurofibroma. The diagnosis of LEOPARD syndrome has been made on clinical grounds, whereas the ichthyosis and neurofibroma have been histologically confirmed. The analogies between LEOPARD syndrome and neurofibromatosis ...

Multiple evanescent white dot syndrome (MEWDS) is an acquired chorioretinal disorder of unknown etiology. We investigated the possibility that MEWDS might be related to a specific HLA subtyping. Blood was obtained from nine patients affected by MEWDS. HLA-B51 was found in four of these nine patients with MEWDS. There was ...

The Brown-Séquard syndrome as spinal hemiplegia with contralateral sensory deficits has been related to a variety of underlying diseases. We describe the case of a 35-year-old right-handed white female presenting with a Brown-Séquard syndrome as the first and sole symptom of multiple sclerosis, underscoring the importance of multiple sclerosis as ...

A 36-year-old short-statured grande multipara (gravida 10, para 8) with diabetes mellitus and hyperlipidaemia was incidentally found to have Buschke-Ollendorff syndrome (osteopoikilosis and dermatofibrosis lenticularis disseminata). The pelvis and hips, followed by the knees, were the sites mainly affected by the osteopoikilosis. The lumbosacral spine was also affected. She had ...

Antley-Bixler Syndrome (ABS) is an autosomal recessive trait disorder characterized by multiple bone and cartilaginous abnormalities. Primary features include significant craniosynostosis, midface hypoplasia with choanal stenosis or atresia, femoral bowing, radiohumeral synostosis, and multiple joint contractures. Cardiac, renal, and gastrointestinal malformations have also been described. This report describes the management ...

Alagille's syndrome is an inherited disorder affecting multiple organ systems. Most characteristic is the paucity of the interlobular bile ducts with cholestasis. The anaesthetic plan for these patients should be based on careful preoperative preparation and attention to the issues involving hepatobiliary, cardiac, neurodevelopmental, nutritional, haematological, ocular and facial abnormalities. ...

Antecubital pterygium is rare in the nail-patella syndrome but common in the multiple pterygium syndrome and aplasia of the trochlea. It is known that there is the rebound phenomenon after treatment of congenital joint contracture. We describe the poor functional results due to rapid recurrence of the flexion contracture treated ...

BACKGROUND: Multiple evanescent white dot syndrome is a benign, rare, acute, usually unilateral disease that primarily affects young women. Retinal findings can include white dots at the level of the retinal pigment epithelium, optic nerve head swelling, an enlarged blind spot, and paracentral and central scotomas. Visual loss can be ...

Williams syndrome (WS) is associated with a deletion of the elastin gene in over 90% of cases. We report maternal serum alpha feto-protein (MSAFP) levels in 5 women whose fetuses were later diagnosed as having WS. MSAFP levels ranged from 0.5-0.8 multiples of the median (MOM). Although further confirmation is ...

The case histories of ten workers with Hand-Arm Vibration Syndrome (HAVS) indicate that their predominant vibration exposure was to impact vibration. This association, recognized previously in pedestal grinders and in multiple hand tool users, should now be identified in spot welders and press operators. This will have important implications for ...

We report on a Japanese girl with multiple cranial hyperostoses and a cardiac tumor, both of which manifested in early childhood. Unique juxtasutural lesions characterized the cranial findings, including a chain of almost symmetrical osseous protuberances involving the frontozygomatic and frontoparietal junctions, and discrete bony bumps on the right occipitoparietal ...

PURPOSE: To report a case of hemophagocytic syndrome, which is characterized by hemophagocytosis of histiocytes; optic nerve involvement, and unusual retinal white patches. METHOD: Case report. A 10-year-old boy had repeated relapses of hemophagocytic syndrome. He complained of swelling of the right upper eyelid and bilateral visual disturbance. RESULTS: Ophthalmoscopic ...

The multiple endocrine neoplasia (M.E.N.) syndromes consist of a group of proliferative disorders that selectively target specific sets of endocrine and soft tissue cells. Here we report a case of lymphangioleiomyoma of the lung in a patient with multiple endocrine neoplasia Type I (M.E.N. I). This is the first time ...

This is a report of a young boy with the unusual combination of autonomic dysfunction with locked-in syndrome following multiple shunt revisions for hydrocephalus. A review of the literature on autonomic dysfunction syndrome and the complex clinical picture of the combined syndromes in a pediatric patient are discussed. The marked ...

BACKGROUND: Eccrine syringofibroadenoma (ESFA) is a rare eccrine tumor that has characteristic histopathologic features and variable clinical findings. OBJECTIVE: Our purpose was to define the clinical and histopathologic features of ESFA, to assess a possible syndromic association and heredity, and to propose a clinicopathologic classification. METHODS: Three solitary and five ...

We describe a "new" syndrome of spondylospinal thoracic dysostosis with a short curved spine and fusion of the spinous processes, short thorax with "crab-like" configuration of the ribs, pulmonary hypoplasia, severe arthrogryposis and multiple pterygia, and hypoplastic maxilla and mandible in two siblings. This appears to be an autosomal recessive ...

A 28-year-old man presented to the authors' hospital with multiple intracranial tumors. At 2 years of age, he had undergone resection of a medulloblastoma and received adjunctive craniospinal irradiation. Subsequently, he was diagnosed with nevoid basal cell carcinoma syndrome, Gorlin's syndrome. Since his first presentation, he has required surgery for ...

Multiples of medians of serum markers are assumed to be independent of gestational age: every algorithm used for Down's syndrome risk evaluation is based on this hypothesis. However, our former observations suggested that multiples of medians of human chorionic gonadotrophin in Down's syndrome are dependent on gestatational age. Furthermore, observations ...

Neurologic diseases are one of the most common indications for therapeutic plasma exchange (TPE). In autoimmune neurologic diseases like Guillain-Barre syndrome, myasthenia gravis, chronic inflammatory demyelinating polyneuropathy, and paraprotein-associated polyneuropathy, TPE has been found to be beneficial. In some others (e.g., multiple sclerosis and Eaton-Lambert syndrome), TPE cannot be considered ...

Severely involved female child with Multiple Pterygium Syndrome (Escobar) is described. She had the typical findings of the syndrome such as multiple pterygiums, characteristic facial appearance, genital anomalies. She also had bilateral optic atrophy. This is the first case described so far with optic atrophy in Multiple Pterygium Syndrome (Escobar).

Multiple chemical sensitivities (MCS) syndrome is a controversial diagnosis that has arisen in the latter half of the 20th century. Clinical ecologists strongly believe that multiple common environmental chemicals assault the immune system in certain individuals, producing multisystem disease. Mainstream medicine, however, largely believes that the symptoms of MCS syndrome ...

Multiple hamartoma syndrome (Cowden's syndrome), a rare genodermatosis with predominant mucocutaneous features, particularly hamartomas, and Cowden/Lhermitte-Duclos disease, the combination of multiple hamartomas with cerebellar hypertrophy, typically present with cutaneous and oral papillomatosis as major features of both uncommon disorders. This article details the clinical features of three patients with multiple ...

Pachydermodactyly is a benign, superficial fibromatosis frequently observed in young males. We describe the condition in two young girls affected by Ehlers-Danlos syndrome (EDS) and tuberous sclerosis, respectively. We hypothesized that in the patient with tuberous sclerosis, pachydermodactyly is a clinical manifestation of the associated systemic disease, whereas obsessive-compulsive behavior ...

OBJECTIVE: To present a complementary hypothesis concerning the pathogenesis of the multiple organ dysfunction syndrome. DATA SOURCES: Primary reports and reviews published in peer-reviewed medical and scientific journals. HYPOTHESIS: We suggest that healthy organs behave as biological oscillators, which couple to one another during human development, and that this orderly ...

OBJECTIVE: To describe plateau iris syndrome associated with multiple neuroepithelial cysts of the pars plicata. METHODS: Case reports of 3 patients with plateau iris syndrome who were found to have multiple bilateral ciliary body cysts on ultrasound biomicroscopic examination. RESULTS: Ultrasound biomicroscopy revealed classic features of plateau iris syndrome in ...

Multiple organ dysfunction syndrome and the systemic inflammatory response syndrome are expressions of an inappropriate, generalized inflammatory response to severe inflammatory stimuli, which may be bacterial or nonbacterial in nature. The clinical signs and symptoms, morphologic alterations, and changes in oxygen transport seem to be the direct effect of phagocyte ...

A 39 year old patient with cerebellar signs, juvenile cataracts, and dull normal intelligence had cerebrotendinous xanthomatosis without tendon xanthomas, diagnosed previously as Marinesco-Sjoegren syndrome. Cerebrotendinous xanthomatosis was proved by a greatly increased excretion of bile alcohols in the patient's urine. Cerebrotendinous xanthomatosis is a sterol storage disorder due to ...

Self-reported information about health and mental health status and history on (a) three diverse samples of individuals who reported multiple chemical sensitivities syndrome (n = 60) and (b) one sample of the general population (n = 60) was collected by telephone interview. Subjects from the general population were selected randomly ...

We report the unusual case of a man with a 5-year history of relapsing Henoch-Schonlein purpura (HSP) and macroscopic polyarteritis nodosa (PAN) as early manifestations of IgA kappa multiple myeloma. The glomeruli contained monoclonal IgA kappa deposits, without other immunoglobulins or lambda light chains. Glomerular deposits lacked the usual electron ...

Aicardi syndrome is characterized by agenesis of the corpus callosum, infantile spasms, and ocular anomalies. Very few morphologic descriptions have been made of the central nervous system of children with this syndrome. We performed a postmortem examination of the brain of a 13-year-old girl with clinically well-documented Aicardi syndrome. Gross ...

Multiple immunologic disturbances are commonly observed in individuals with Down's syndrome including abnormal proportions of peripheral blood lymphoid subsets, cellular dysfunction, and autoimmune phenomena. However, a majority of the individuals with this syndrome do not show clear features of immunological disease. Many of these immunological alterations are age-related changes and ...

A case of polyarticular pigmented villonodular synovitis associated with many congenital phenotypic peculiarities (such as shortness, blue sclerae, flattened nose, low-set ears, hypertelorism, curly hair and pulmonary stenosis) is described. The presence of many of the typical signs of the Noonan syndrome and the histological finding of giant cells on ...

We observed 2 families with 26 individuals affected by multiple lentigines syndrome (MLS). All patients had extensive generalized lentigines, including in the axillary and inguinal regions, diffuse hyperpigmentation, hypopigmented patches, and hyperpigmented patches, many of which appeared clinically to be cafe au lait spots. Multiple lentigines syndrome should be considered ...

A 58 year old man presented with a three year history of impotence, night sweats and ankle swelling. On examination, the patient fulfilled the diagnostic criteria for POEMS syndrome, but was unusual in that he also had underlying Waldenström's macroglobulinaemia with IgM kappa paraproteinaemia. The patient was treated with intermittent ...