We report three cases of histologically verified systemic amyloidosis with polyneuropathy. Common to them were early onset progressive peripheral sensorimotor disturbance starting in the legs and prominent autonomic dysfunctions such as postural hypotension, anhidrosis, and loss of pupillary light reflexes. Other characteristic features included vomiting, alternating diarrhea and constipation, opacities ...

We report the first case of calcinosis cutis following electromyographic examination. All previously reported cases of iatrogenic calcinosis cutis occurred following electroencephalographic examination using calcium-containing electrode compounds or following the extravasation of calcium-containing solutions along infiltrated intravenous lines. We also review the literature on calcinosis cutis due to iatrogenic and ...

Behçet's syndrome is a rare multisystem disorder. The occurrence in families although well recognised is uncommon. The mode of inheritance, however, has not been elucidated. Sixty-one cases of familial disease have been documented to date. There was only one previous report on familial Behçet's syndrome with gastrointestinal involvement. This paper ...

Two familial scrapie cases successively occurred in 29-month-old and 30-month-old Corriedale dams and in three of their offspring as early as 10-19 months of age in a small flock. They showed ataxy but no pruritus. Histopathological and immunochemical examinations of those sheep revealed vacuolation of nerve cells in brain tissue ...

Recently we evaluated an American family with the chorioretinal dysplasia-microcephaly-mental retardation syndrome (CDMMS, McKusick #156590). The male-to-male transmission observed for the first time in the family of this report confirms autosomal dominant inheritance. Analysis of our cases and review of the literature illustrates the variable expressivity of this disorder and ...

BACKGROUND: Nasopharyngeal carcinoma (NPC) and anaplastic salivary gland carcinoma (SGC), both associated with Epstein-Barr virus (EBV), are common among Inuit from Greenland, Canada, and Alaska. Because immigrant studies have shown that factors acting early in life are important for the development of NPC, the authors interviewed new patients in Greenland ...

A family is reported in which camptodactyly, club foot, pectus excavatum and undescended testes are transmitted as an autosomal dominant with reduced penetrance and variable expressivity, affecting 13 members through five generations. Penetrance is more reduced in females than in males and asymptomatic carriers are always females. Similar findings were ...

Two cases of erythromelanosis follicularis faciei et colli in one family, affecting a brother and sister are described. In these cases erythromelanosis follicularis faciei et colli, a process of unknown aetiology, seems to have a clear hereditary component--autosomal recessive mode of inheritance--a feature which, as far as we know, has ...

Familial cases of childhood congestive cardiomyopathy with X linked recessive inheritance and abnormalities of heart muscle mitochondria have been previously reported. We report here three families with possible X linked congestive cardiomyopathy and specific mitochondrial abnormalities. The heart disorder presented as endocardial fibroelastosis with neonatal death in two brothers in ...

Multicentric plaques of typical pathomorphology have been described in two members of the well-documented German family "Sch" with Gerstmann-Sträussler-Scheinker's syndrome (GSS). The case of a third affected member with a clinical course of 10 years is now reported. In addition to multicentric plaques, small granules of prion protein (PrP) with ...

Anterior sacral meningocele is a not rare entity. Treatment is usually surgical and consists in a transacral posterior approach with patching of the communication between the malformation and the dural sac. But surgery can be difficult and require multiple procedures. We report the first case of a giant anterior sacral ...

Symphalangism is a rare genetic condition that may represent the earliest documentation of mendelian inheritance in man. The disorder results in interphalangeal joint fusion in the hands and feet. The authors review this rare condition and present a case study consisting of four generations with 15 affected family members. The ...

We present a sporadic infantile case of primary cerebral mineralization with unexpected asymptomatic clinical course. An 11 months old boy with negative familial and gestational data developed normally. He died after two days of fever and rapid course of cardiorespiratory failure due to pneumonia. Parathyroid dysfunction and somatic abnormalities were ...

Vitreous amyloidosis is a rare condition that occurs in some forms of Transthyretin hereditary Amyloidosis, mainly in Familial Amyloidotic Polyneuropathy type I. Vitreous opacities may be the earliest occurring or, in some cases, only symptom of this disorder. In such cases a family history of amyloidosis is usually present. We ...

About 10 Thai collodion babies were treated at the Department of Pediatrics, Faculty of Medicine, Chulalongkorn University from 1970 to 1990. Most of them were premature and small for gestational age infants. The sex incidence of males to female was 3:2. Only half of the cases had a family history ...

We report three siblings born with severe neonatal encephalopathy, manifested clinically by microcephaly, myoclonus, and muscular hypertonus. Karyotypic analyses and all biochemical investigations were unrevealing. All three patients died during infancy. Postmortem examination of the brain in one child disclosed severe neuronal loss in the inferior olives and the pontine ...

In the county of Västerbotten in northern Sweden, 20 families with 50 diagnosed cases and 53 sporadic cases of tapetoretinal degenerations (TRD), including retinitis pigmentosa (RP), were ascertained. The familial and sporadic cases were traced genealogically as far back as was possible. Ancestors born before 1890 (n = 12,033) were ...

The authors report 8 cases of familial cystic hygroma concerning 3 families. In the first family, the two affected fetuses with normal karyotypes showed cystic hygroma of the neck associated with campomelic long bone disease. No other fetal anomalies in the two fetuses were found in the second family, and ...

Three cases in three successive generations of one family with autosomal dominant congenital stationary night blindness are presented. Case 1, the proband, and Case 3, his grandfather had the same electroretinographic responses: nonrecordable scotopic electroretinogram (ERG), normal but slightly diminished flicker ERG, and negative-shaped single bright-flash ERG. Their dark adaptation ...

The basal ganglia calcification is known since the last century but with the new neuroimage techniques (CT scan) its diagnosis became more frequent specially in asymptomatic patients. The authors report a case with non-familial primary diffuse encephalic calcification with exuberant calcifications on cerebral hemispheres, cerebellum and brain stem, seen on ...

Vesicoureteral reflux is now recognized to be hereditary and familial. The incidence of reflux in siblings has proved to be significant but less is known about the incidence of reflux in the offspring of known reflux patients. In an ongoing prospective series of reflux screening we identified 23 patients of ...

Fazio-Londe disease is a label sometimes applied to a degenerative disease of the motor neurons characterized by progressive bulbar paralysis in children. It is very rare with only 22 case reports describing 24 children including four sibling pairs. In two reports mothers and sons were affected. The neuropathology is described ...

Nonsyndromal omphalocele is generally regarded as a sporadic malformation. Recurrence risk is considered negligible. We report on a patient in whom 5 consecutive pregnancies (by 2 separate nonconsanguineous partners) were complicated by omphalocele as an isolated defect. Neither the patient nor her partners had history of relatives with omphalocele, although ...

Epidermal nevi are typically congenital but rarely familial. We report on a family in which 3 relatives have systematized epidermal nevi. The propositus also has evidence of a hemangioma and a hemangioendothelioma. Peripheral blood and skin fibroblast karyotypes of the propositus did not show evidence of mosaicism. Epidermal nevi have ...

We report a case of neonatal hemochromatosis in which the genetic counseling was initiated by, and based on, retrospective pathologic diagnosis. Perinatal or neonatal hemochromatosis is beginning to be recognized as a distinct clinical entity and one of the most common causes of perinatal cirrhosis. The exact mechanism of liver ...

The aetiopathogenesis of secondary retention is not fully understood, but heredity is involved in at least some cases. In this study first-degree relatives of 52 patients with secondary retention of permanent molars were screened for the presence of the same phenomenon in their dentition. Familial occurrence could be shown in ...

Nine new cases of mesothelioma clustering in four families are described, and additional information is provided on four previously reported families. All of the members of these families had some exposure to asbestos. Diagnoses were confirmed histologically, and the relevance of the histologic pattern is discussed after the literature review. ...

Members of the family Oedemeridae are known as false blister beetles. Although they have a worldwide distribution, oedemerid blister beetle dermatosis has been described only in the Pacific basin and the Caribbean. We report a case of the disorder in the Hawaiian Islands caused by Thelyphassa apicata (Fairmaire). To our ...

Seven first degree relatives in three generations of a family with partial sacral agenesis are reported. Anterior sacral meningoceles were found in five cases, four of whom had severe constipation, one with urinary voiding dysfunction, and another without constipation who had low pressure headaches and dyspareunia. The anomalad was transmitted ...

We conducted a case-control study to assess possible factors associated with Alzheimer's disease (AD) with 70 clinically diagnosed AD patients and 140 age- and sex-matched nondemented neighborhood controls in China. Factors significantly associated with AD cases were family history of dementia in first-degree relatives, family history of psychotic disorders in ...

Premenstrual tension syndrome (PMS) is well known in its epidemiology, etiology, symptomatology and treatment. However, PMS characterized by bulimic episodes is rare. We report a case of a 20-year-old university student who suffered from uncontrollable binge eating premenstrually for six months before visiting our clinic. She was obese without any ...

The case of a Brazilian patient with cortico-basal ganglionic degeneration (CBGD) is presented. Since three years ago, a 71-year old male displays asymmetric ideomotor apraxia, gait apraxia, cortical sensory impairment, myoclonus, limp dystonia and rigidity. His mental status is spared. There is neither consanguinity nor similar cases in his family. ...

The familial occurrence of primary hyperparathyroidism in which the proband is a 55-year-old man is reported. His 58-year-old sister and 40-year-old brother had undergone partial parathyroidectomy, and histological examination revealed hyperplasia in both cases. Their father and a daughter of the proband had a history of nephrolithiasis. The three siblings ...

Inherited metabolic diseases resulting in urolithiasis secondary to urinary excretion of insoluble substances are rare but often present as urinary obstruction of renal insufficiency. We herein report a case of partial adenine phosphoribosyltransferase deficiency associated with 2,8-dihydroxyadenine urolithiasis. In family members the propositus and his younger brother are homozygotes for ...

A large family is reported in which microcephaly and short stature is segregating as a probably autosomal dominantly inherited trait. Some affected members also show a delayed onset of puberty. No other clinical or radiological symptoms are present, and psychomotor development is normal. This short report confirms an earlier description ...

A mother and daughter are presented who had intracranial hypertension 5 years apart. Possible contributing factors were the presence of obesity and occasional asthma in both. A review of the literature reveals three other families with intracranial hypertension occurring in successive generations (suggesting autosomal dominant transmission) and four families with ...

A 56-year-old woman displayed a condition of alternating unilateral lachrymation while she was undergoing psychotherapy. Although she was aware of this condition only since her marriage, hypnotic age regression revealed its existence in childhood, together with mutism and a catatonic trance-like state. Further investigation revealed the connection of this symptom ...

White sponge nevus (WSN) is a rare inherited disorder which usually presents as non-painful white plaques primarily involving the buccal mucosa, gingiva and palate. Extra-oral lesions most often occur in the esophagus or anogenital area but almost invariably follow the development of typical buccal lesions. We present a non-familial case ...

The association of sternal fusion defects with various cardiac, diaphragmatic, and anterior body wall defects represents a developmental field complex that includes the Pentalogy of Cantrell and ectopia cordis. No familial cases have been reported previously. We present 3 consecutively born brothers with extensive diaphragmatic defects, 2 who had the ...

Dyskeratosis congenita (DC) is an unusual familial disorder primarily affecting the skin and its appendages. We report the case of a DC patient with chronic respiratory tract involvement, confirming the features previously reported by a small number of authors: 1) chronic bronchoalveolar involvement is not unusual in this disorder; 2) ...

In this era of rapidly developing investigational tools and pharmacology, the pathophysiology of precocious puberty is becoming well defined. What was previously thought to be a form of gonadotrophin releasing hormone (GNRH)-dependent central precocious puberty is now classified as GNRH-independent familial testotoxicosis. We present two such cases and review the ...

Mesenteric venous thrombosis is a rare insidious event that is difficult to diagnose. Approximately half the cases in the past were deemed "primary" or "idiopathic." These cases were also frequently associated with a previous history of thromboembolism and a family history positive for thromboembolism. Inherited hypercoagulable disorders, such as deficiency ...

The first documented case of Huntington's Disease (HD) in Thailand is reported. The patient presented with classical clinical picture, clinical course and family history. Although hereditary chorea is most frequently associated with HD, other hereditary basal ganglion diseases, Syndenham's chorea, and other causes of abnormal movements were considered and excluded ...

Juvenile (including congenital and infantile) cataract occurs commonly as part of a more generalized or systematic condition, or as a component of a syndrome. Isolated juvenile cataract is a relatively rare disorder and the mode of inheritance is often autosomal dominant. Autosomal recessive transmission of isolated juvenile cataract is rare. ...

We examined 8 cases of familial ALS (amyotrophic lateral sclerosis) in three different families from our province, admitted to our hospital between 1970 and 1989. Clinical criteria for diagnosis were satisfied in all cases; EMG was performed in 6 out of 8 patients. 4 cases showed classical onset and 4 ...

Adult-onset, autosomal dominant myopathy with limb-girdle distribution in a Chinese family is reported. Nine members were affected with characteristic proximal weakness and pelvifemoral-preceded scapulohumeral involvement. The facial, extraocular and bulbar muscles were spared. Rimmed vacuoles were the most obvious characteristics in the myopathologic study of the biopsy specimens from four ...

A family of seven siblings is described, all of whom, developed finger clubbing during their third decade. Three of the seven developed cryptogenic fibrosing alveolitis (CFA). Of the remaining four siblings, two have died prematurely from conditions possibly associated with cryptogenic fibrosing alveolitis. The youngest two siblings remain asymptomatic at ...

Melnick-Needles syndrome is a rare connective tissue disorder producing somatic abnormalities with characteristic radiographic features. There are less than 35 documented cases reported to date. We present four new cases of Melnick-Needles Syndrome, one of which is the first reported Asian-ancestry patient. Two girls are daughters of one of Needle's ...

This paper reports the results of a clinical, genetic and histopathological study of 19 patients belonging to a large inbred Palestinian family living in Um-El-Fahem, a town located in Israel, which is solely inhabited by Arabs. Their custom of marrying only among relatives has kept the genetic homogeneity of the ...

Two new cases of Spondylo-Costal Dysostosis (SCD) are reported in two siblings with strikingly similar skeletal abnormalities. Parental consanguinity documents in this family an autosomal recessive inheritance of trait. Clinical variability of SCD is discussed on the basis of clinical and radiological features. Its genetic heterogeneity is pointed out even ...