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At least 109 records · Page 6Linked to original sources
PubMed1994

Syndrome of inappropriate secretion of antidiuretic hormone (SIADH) and Gerhardt syndrome associated with Shy-Drager syndrome.

This is the first report on a case of syndrome of inappropriate secretion of antidiuretic hormone (SIADH) associated with Gerhardt syndrome (paralysis of bilateral vocal cords). A 67-year-old Japanese man suffering from progressive autonomic failure was diagnosed as having Shy-Drager syndrome (SDS) with hyponatremia due to SIADH and severe sleep apnea caused by a bilateral recurrent nerve palsy. Water load test showed alteration in diuresis which was corrected by phenytoin. Arginine vasopressin secretion was not suppressed by plasma osmolality below 280 mOsm/kgH2O. Impairment of the afferent pathways of baroreceptors, or impairment of the osmoreceptors could be speculated as the etiological factor of the SIADH observed in this case.

Aged↗
PubMed1999

[Acute shock encephalopathy syndrome in a girl with Sotos syndrome--with special reference to differentiation from Reye syndrome].

We reported here a 5-year-old girl with Sotos syndrome who developed acute shock encephalopathy syndrome (ASES), and differentiated ASES from Reye syndrome (RS). Abrupt onset of shock and status epilepticus developed and these were followed by disseminated intervascular coagulation (DIC) and liver damage. Gradual elevation of hepatic enzymes, high serum bilirubin value, and normal serum ammonia value in acute phase were incompatible with typical RS. Liver histology showed severe, diffuse necrosis of hepatocytes consisting of granular and vacuolar degeneration, which were quite different from those of RS. Thus, the disease process of ASES was shown to be different from those of RS.

Acute Disease↗
PubMed1995

[Acute myelomonocytic leukemia complicated with syndrome of inappropriate secretion of antidiuretic hormone, nephrotic syndrome, and hemophagocytic syndrome].

A 59-year-old man was admitted to our hospital because of fever in August 1991. Bone marrow showed normocellularity with 41.5% of CD13, 14, 33 positive blasts, and a diagnosis of AMMoL was made. Laboratory investigation revealed hyponatremia and elevated serum ADH level, indicating the syndrome of inappropriate secretion of antidiuretic hormone (SIADH). Intensive chemotherapy successfully induced hematological complete remission and his serum sodium level became normal. In February 1992, he developed proteinuria and findings were consistent with nephrotic syndrome (NS). Renal biopsy specimen showed membranous proliferative glomerulonephritis and massive infiltration of macrophages, and his serum interleukin 6 level was elevated. Five months later, he suffered from pancytopenia and elevation of biliary enzymes with increase of hemophagocytic histiocytes in his bone marrow (hemophagocytic syndrome). He transiently responded to low dose chemotherapy but he died due to severe infection. It is interesting that association between macrophages and/or cytokines with these various complications was suggested in AMMoL.

Fatal Outcome↗
PubMedDate not supplied

A comparison of the effects of parental risk markers on pre- and perinatal variables in multiple patient cohorts with fetal alcohol syndrome, autism, Tourette syndrome, and sudden infant death syndrome: an enviromic analysis.

The prevalence and magnitude of effect of individual risk markers for specific developmental disorders vary widely across diagnostic category. The four study cohorts for this project were patients from four diagnostic registries in North Dakota for fetal alcohol syndrome (FAS), autism, sudden infant death syndrome (SIDS), and Tourette syndrome. These four cohorts were used to estimate prevalence and magnitude of effect of parental risk markers in patients with developmental disabilities. Cases with North Dakota birth certificates were matched with controls. Using birth certificate data, we then examined five parental risk markers for each cohort and estimated direct and indirect effects for each risk marker by cohort. The authors found two significant paternal risk markers (age in SIDS and education in FAS). Significant maternal markers were age in SIDS, education in FAS, autism, and SIDS. Marital status was a significant risk marker in FAS. Effect sizes were estimated using paired t tests, odds ratios, and population attributable risk (PAR) for both direct and indirect effects for each marker. We estimated both direct and indirect effects to allow for direct comparisons of the differential effect estimates of each of these markers. The direct effect of parental markers differs across diagnostic cohorts of patients. Use of cohorts from similar denominator populations obtained from prevalence studies is a useful methodological tool for estimating the prevalence and magnitude of effect of risk markers.

Age Factors↗
PubMed1987

Rett syndrome--a review and discussion of syndrome delineation and syndrome definition.

The current status of clinical genetic and pathogenetic knowledge in Rett syndrome is reviewed and updated. Some of the concepts which are highlighted include among others, casual homogeneity vs heterogeneity; the difficulty of dealing with potential variability while the possibility of heterogeneity still exists; progress in examining genetic hypotheses. We review our experience with 8 new patients, note the evidence for the presence of congenital hypotonia in all and several instances of minor anomalies and again raise the issue of whether girls with the Rett syndrome are in fact normal from the time of birth and in early infancy until the characteristic phenotype is recognizable. Previous recommendations for standardized international history, examination and investigation protocols are strongly reinforced, and the question as to who should study brains of Rett syndrome patients is raised by a parent. As is the case in most conditions now being studied by molecular geneticists, finding a marker will be a major etiologic breakthrough, but the work of delineating the pathogenesis will remain to be done.

Adolescent↗
PubMed2002

[Staphylococcal toxic syndrome, atypical presentation of Kawasaki syndrome or staphylococcal skin syndrome?].

CASE REPORT: A three-year-old girl was admitted for persistent fever, erythermatous rash with subsequent desquamation, stomatitis, cheleitis and cervical lymphadenopathy following development of a buttock abscess secondary to an insect bite. A TSS-positive Staphylococcus aureus strain was isolated from the abscess. COMMENTS: Both clinical and bacteriological features led to discuss a "toxic shock syndrome without shock", an atypical form of Kawasaki syndrome without thrombocytosis and coronary arteritis or a staphylococcal skin syndrome. An early treatment with antibiotics could have limited the toxin production explaining both symptomatology and favourable course of the disease.

Abscess↗
PubMed2001

Waardenburg syndrome type 3 (Klein-Waardenburg syndrome) segregating with a heterozygous deletion in the paired box domain of PAX3: a simple variant or a true syndrome?

Klein-Waardenburg syndrome or Waardenburg syndrome type 3 (WS-III; MIM 148820) is characterized by the presence of musculoskeletal abnormalities in association with clinical features of Waardenburg syndrome type 1 (WS-I). Since the description of the first patient in 1947 (D. Klein, Arch Klaus Stift Vererb Forsch 1947: 22: 336-342), a few cases have been reported. Only occasional families have demonstrated autosomal-dominant inheritance of WS-III. In a previous report, a missense mutation in the paired domain of the PAX3 gene has been described in a family with dominant segregation of WS-III. In this report, we present a second family (mother and son) with typical clinical findings of WS-III segregating with a heterozygous 13-bp deletion in the paired domain of the PAX3 gene. Although homozygosity or compound heterozygosity has also been documented in patients with severe limb involvement, a consistent genotype-phenotype correlation for limb abnormalities associated with heterozygous PAX3 mutations has not previously been apparent. Heterozygous mutations could either reflect a unique dominant-negative effect or possibly the contribution of other unlinked genetic modifiers in determining the phenotype.

Chromosome Segregation↗
PubMed2003

Hypothenar hammer syndrome: a discrete syndrome to be distinguished from hand-arm vibration syndrome.

BACKGROUND: Hypothenar hammer syndrome (HHS) is a cause of vascular insufficiency to the hand and may be manifest as Raynaud's phenomenon. The cause is trauma to the vulnerable portion of the ulnar artery as it passes over the hamate bone, which may result in thrombosis, irregularity or aneurysm formation. AIM: This review was undertaken in order to clarify the features of HHS that may differentiate it from hand-arm vibration syndrome. METHODS: A tiered review of world literature was undertaken using Medline and EMBase as the primary search engines. Fifty-two relevant articles were critically reviewed. CONCLUSION: Colour and temperature changes occur more diffusely in HHS than in classical Raynaud's phenomenon and the absence of the triphasic colour change may alert clinicians to the diagnosis, which may be confirmed by Allen's test. Doppler or arteriographic studies are required for confirmation. It is important to recognize the possibility of HHS in the occupational setting as a potentially curable cause of Raynaud's phenomenon, distinct from hand-arm vibration syndrome. The possibility exists of HHS occurring as a result of repeated hypothenar trauma from vibrating tools, in which case the nature and magnitude of the individual episode of trauma may be more important than the weighted acceleration level of vibration exposure.

Arm Injuries↗
PubMed1991

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

A syndrome of holoprosencephaly and postaxial polydactyly, associated with hydrocephalus, heart defect, adrenal hypoplasia, and other visceral malformations, has been observed in five unrelated children with normal chromosomes. Clinical overlap with lethal acrodysgenital dwarfism (Smith-Lemli-Opitz syndrome type II) and hydrolethalus syndrome is discussed. Recessive inheritance seems likely.

Abnormalities, Multiple↗
PubMed2000

[Reye's syndrome: the death of a syndrome? (Or death by a syndrome?)].

Reye syndrome is characterized by acute encephalopathy and fatty degeneration of the liver almost exclusively in children. The onset is heralded by profuse vomiting and varying neurologic impairment from irritability to coma, decerebration and death. The encephalopathy must be associated with a greater increase in the levels of ammonia, or alanine amino-transferase and aspartate amino-transferase in serum; and with a fatty metamorphosis of the liver diagnosed by biopsy or at autopsy. The only characteristic universally accepted as diagnostic are the specific mithocondrial changes in the liver-biopsy specimen. Larger studies confirmed the association of aspirin with RS. The CDC of Atlanta cautioned physician and parents and a dramatic decline in case began at that time. Classic Reye syndrome is now so rare in the USA that when an apparent case is encountered in a child who has not taken aspirin, other diagnoses should be considered. After a brief survey of RS relative lack of specificity of case definition and of the polyhedric etiopathogenetic moments, the A. on the personal experience, point: a) the biological unicity of the man and the necessary coexistence of "constitutional" factors (metabolic and/or endocrine, and/or immunitary factors, the later almost never investigated), toxic, and infectious factors for the syndrome's deflagration; b) some aspects of the continued existence of therapeutic and diagnostic problems: the aspirin and/or salicilate use and the pharmacogenetic; the continued existence of other, generally similar conditions, such the drug and other known and unknown toxic mithocondrial factors that provoke this unusual response to common infections; and the inborn errors of metabolism; c) some practical aspects of diagnostic and therapeutic approach.

Anti-Inflammatory Agents, Non-Steroidal↗
PubMed1996

Ocular manifestations in Delleman syndrome (Oculocerebrocutaneous syndrome, OCC-syndrome) and encephalocraniocutaneous lipomatosis (ECCL). Report of three cases.

The authors present two patients with Delleman syndrome and one in with possible ECCL. Two boys with Delleman syndrome showed characteristic dysmorphic features with cerebral, ocular and skin malformations. The ocular anomalies consisted of eyelid coloboma, microphthalmia, iris coloboma and epibulbar lypodermoids. A third boy with possible ECCL syndrome had limbal lypodermoids, ectopia pupillae and aberrant iris tissue in the right eye. He showed an ipsilateral focal dermal hypoplastic defect within an area of alopecia of the scalp.

Abnormalities, Multiple↗
PubMed1988

The syndrome of diaphragmatic hernia, abnormal face and distal limb anomalies (Fryns syndrome): report of two sibs with further delineation of this multiple congenital anomaly (MCA) syndrome.

We describe 2 sibs with the syndrome of diaphragmatic hernia, abnormal face, and distal limb anomalies. Both infants died shortly after birth with severe respiratory distress. Postmortem examination showed gross internal anomalies: Dandy-Walker malformation, ventricular septal defect, and renal cystic dysplasia. This combination of anomalies, also termed the Fryns syndrome, appears to be a distinct MCA syndrome with variable expression and probable autosomal recessive inheritance. Prenatal ultrasonographic diagnosis was successful in both patients.

Abnormalities, Multiple↗
PubMed1999

[A rare headache syndrome. SUNCT syndrome, hemicrania continua and red ear syndrome].

Rare headache syndromes that are so fare not yet admitted to the classification system of the International Headache Society are the SUNCT syndrome (short-lasting, unilateral, neuralgiform headache attacks with conjunctival injection and tearing), the hemicrania continua and the red ear syndrome. The clinical characteristics, differential diagnoses and therapeutic strategies of these pathophysiologically unclarified diseases are presented with three casuistic reports.

Aged↗
PubMed1979

[Styloid syndrome; Sluder's syndrome; Charlin's syndrome].

The styloid syndrome is caused by an irritation of the glossopharyngeal nerve from an excessive development of the styloid apophysis. Treatment consists of the resection of the same. The Sluder syndrome represents a nevralgy with origin in the sphenopalatine ganglion and a dysfunction of the parasympathetic system. The Charlin syndrome, much less frequent, manifests itself by pains in the territory of the nasociliar nerve and the ciliar ganglion.

Bone Diseases↗
PubMed1993

[A further case with Baller-Gerold syndrome (craniosynostosis--radial aplasia syndrome)--overview and new viewpoints on a rare syndrome].

The Baller-Gerold syndrome is a rare malformation syndrome with craniosynostosis. A radial defect is the main feature of this combination besides the premature craniosynostosis. The entity and the etiology of this inherited trait was often discussed in recent years. This syndrome is further characterised and presented as a distinct entity with the reported new case. Parents of such a child should be aware of the 25% recurrence risk in subsequent siblings because of an autosomal recessive mode of inheritance.

Acrocephalosyndactylia↗
PubMed1993

[Two cases of well-known syndrome due to midbrain-brain stem hemorrhage--Weber's syndrome and one and a half syndrome].

Two cases of well-known syndrome due to midbrain-brain stem hemorrhage without having a history of hypertension were reported. Case 1 is a 62-year-old female, presenting Weber's syndrome due to midbrain hemorrhage and diagnosed as Moyamoya disease angiographically. Case 2 is a 24-year-old-male, presenting One and a half syndrome due to brain stem hemorrhage from a brain stem cavernous angioma, which was diagnosed angiographically and by magnetic resonance imaging (MRI). Left hemiparesis seen in case 1 had improved by conservative therapy but no improvement could be obtained in the oculomotor nerve palsy. In case 2, hematoma was aspirated surgically for the purpose of decompression and his neurological symptoms improved markedly. Their pathogenesis and pathophysiology were also discussed.

Adult↗
PubMed1996

Retinitis pigmentosa in a young man with Noonan syndrome: further evidence that Noonan syndrome (NS) and the cardio-facio-cutaneous syndrome (CFC) are variable manifestations of the same entity?

We report on a young man with Noonan syndrome (NS) and retinitis pigmentosa. As far as we know, retinitis pigmentosa has not been reported in NS. However, in the 3 cardio-facio-cutaneous syndrome (CFC) patients in whom electroretinographic studies were performed, retinal anomalies have been found. In addition, decreased vision, refractive errors, strabismus, and optic disc anomalies were reported in CFC patients. This observation suggests that NS and CFC are variable manifestations of the same entity.

Abnormalities, Multiple↗
PubMed1994

A new UV-sensitive syndrome not belonging to any complementation groups of xeroderma pigmentosum or Cockayne syndrome: siblings showing biochemical characteristics of Cockayne syndrome without typical clinical manifestations.

We report here on two siblings who show no clinical manifestations except for slight cutaneous photosensitivity and cutaneous pigmentation but have biochemical characteristics of Cockayne syndrome (CS). Fibroblasts derived from the patients (Kps2 and Kps3) were 3-4 times more sensitive to UV than normal cells. Although unscheduled DNA synthesis (UDS) in these cells was at a normal level, recovery of RNA synthesis (RRS) after UV irradiation was severely depressed. Microinjection of bacteriophage T4 endonuclease V into the cells corrected RRS after UV irradiation to a level near normal. These results indicate that DNA repair of cyclobutane-type pyrimidine dimers is impaired in the cells and the biochemical characteristics are similar to those of CS cells. However, cell fusion complementation tests with CS group A and B cells resulted in correction of RRS after UV irradiation. Cell fusion with XP group A, B, D, F and G cells also corrected RRS after UV irradiation, and microinjection of cell extracts prepared from Kps3 cells corrected UDS in XP group C and E cells, indicating that the patients do not belong to any complementation group of XP or CS. These results suggest that the patients have a new UV-sensitive syndrome with a biochemical phenotype of CS.

Adolescent↗