A 26-month-old girl with Kawasaki syndrome (mucocutaneous lymph node syndrome) is presented. Liver function studies were abnormal and sonographic examination revealed hydrops of the gallbladder. The Tc-99m DISIDA cholescintigraphy demonstrated both early and delayed nonvisualization of the gallbladder. A photopenic area was noted in and below the gallbladder fossa and ...

The first case of central pontine myelinolysis in a child with the Shwachman-Diamond syndrome is reported. Marked fluctuation of serum glucose and sodium levels, but no hyponatremia, was observed throughout the patient's hospital course. Both of these abnormalities may have contributed to the development of the lesion. Liver abnormalities, implicated ...

Lissencephaly is a rare malformation of the human brain manifest by a smooth cerebral surface. It is usually associated with other brain anomalies. The computed tomographic appearance in nine patients with lissencephaly, representing several separate types and syndromes, is reported. Common manifestations include a smooth cerebral surface and absent opercula ...

We have recently examined three young patients with congenital unilateral profound sensorineural hearing loss. On computed tomography the only abnormality discovered was a remarkably enlarged vestibular aqueduct on the abnormal side. The vestibular aqueduct syndrome is an important cause of congenital hearing loss. Although this finding has been well illustrated ...

A syndrome of hyperuricemia, sensorineural deafness, mild mental handicap and congenital disequilibrium in a four-year-old boy is probably inherited as a sex-linked condition since his mother has sensorineural deafness and similar biochemical abnormalities. There is evidence of a superactive PP-ribose-P synthetase, normal purine salvage enzymes, and severe depletion of nicotinamide ...

We have used xeroradiography to study normal and abnormal fetuses including some with anencephaly, hydrocephalus, spina bifida, osteogenesis imperfecta (type IV), Jeune syndrome, radial aplasia, thanatophoric dysplasia, and Pena-Shokeir syndrome. Xeroradiography images the lines of ossification and epiphyses in great detail, shows ossification, and reveals abnormalities that alter bone modeling ...

The term: 'morning glory syndrome' is currently used to describe a clinical complex encompassing a primarily congenital, possibly hereditary optic nerve anomaly associated with other ocular and systemic abnormalities. This syndrome has been shown to be usually limited to the eye with non-involvement of the retrobulbar nerve and brain. However, ...

We studied the clinical and histopathologic ocular findings in four related males with a newly recognized syndrome consisting of microphthalmos, microencephaly, mental retardation, agenesis of the corpus callosum, hypospadius, and cryptorchidism with X-linked recessive inheritance. The ocular abnormalities include microphthalmos, corneal pannus and hypoplasia, cataracts, uveal hypoplasia, retinal dysplasia, optic ...

The author reports eight cases of the Rett syndrome, or dementia-ataxia-autism, in girls. The cases satisfy the following criteria: Normal development in the first mos of life. Profound deterioration of the mental status over a period of several mos. Behavioral pseudoautistic abnormalities. Presence of neurological signs such as ataxia, myoclonus ...

A boy with bilateral colobomas, preauricular pits, and developmental delay had a 46,XY,22q+ karyotype. His parents had normal chromosomes. The abnormality of 22q was interpreted as a de novo tandem duplication of 22q11.1----q11.2. Although no anal abnormality was identified, his manifestations are otherwise consistent with those of the cat-eye syndrome. ...

Four cases of Laurence-Moon-Bardet-Biedl syndrome were studied through electrophysiological and psychophysical examinations, and findings were correlated with those of fluorescein angiography. In all cases the macula showed degenerative changes, including a bull's eye appearance. The fundus periphery could be devoid of clumps of pigmentation, but all cases showed profound functional ...

Ophthalmoplegia, ataxia, and areflexia are present in a distinctive syndrome called Fisher's syndrome. Eye-movement recordings were used to analyze ophthalmoplegia and other eye-movement abnormalities in three patients. Disorders of supranuclear ocular motor pathways (palsy of upward gaze and internuclear ophthalmoplegia) and peripheral cranial nerve palsies could account for the ophthalmoplegia. ...

Nine syndromes associated with varying patterns of abnormal physical growth were selected to study quantitative craniofacial dysmorphology with cephalometric analysis. A schematic diagram was developed in which a hexagon measures the neurocranium and facial skeletal size and form. This hexagon offers the possibility of quantitative dysmorphic roentgencephalometry to study the ...

Three male patients with rigid spine syndrome and predominantly proximal myopathy which developed slowly from childhood are described; two cases were sporadic, one possibly hereditary. All three had the same associated signs and symptoms, differing only in degree. They had tent-like thoracic cages with very steeply sloping ribs, reduced anteroposterior ...

It has been suggested that neurological abnormalities may act in the pathogenesis of Capgras' phenomena. In this case, a schizophrenic male with Capgras' symptoms exhibited evidence of organic dysfunction suggested by the presence of abnormal neurological soft signs, an abnormal EEG, and an atypical computerised tomographic (CT) head scan. These ...

Clinical records, autopsy reports, and microscopic slides from 11 infants with the recombinant 8 syndrome, an inherited abnormality of chromosome 8 affecting Hispanics from New Mexico and Colorado, were evaluated. A prevalence of cardiac and genitourinary anomalies was found, while few central nervous system abnormalities were observed. Dysmorphic features associated ...

Serum samples from 57 Turkish patients with Behçet's syndrome (BS) were analysed for C-reactive protein, histidine, total sulphydryl concentration and gamma glutamyl transpeptidase. Clinical subgroups did not exhibit biochemical differences, including BS with and without arthritis. When compared with normal controls and with patients with active rheumatoid arthritis (RA), those ...

Involvement of the posterior segment of the eye in Goldenhar-Gorlin syndrome is more common than is generally appreciated. We examined seven patients with this syndrome. Abnormalities included diminished visual acuity, tilted optic disc, optic nerve hypoplasia, tortuous retinal vessels, macular hypoplasia and heterotopia, microphthalmia and anophthalmia. In one case, pathologic ...

Standard and 24-hour ambulatory EEG recordings were performed on 54 patients with post-traumatic syndrome that developed after minor closed head trauma or whiplash neck injuries. Paroxysmal activity occurred in 9.2% of patients, either specific or non-specific. While being monitored, 24 patients experienced symptoms typical of this disorder without concurrent EEG ...

Two patients are described with congenital hemihypertrophy and vascular abnormalities of the brain on the side of the hypertrophy and in the posterior fossa. The abnormalities observed included giant aneurysm, capillary hemangioma, and arteriovenous malformation. Vascular anomalies in the affected limbs are common in congenital hemihypertrophy, and neurological abnormalities and ...

Of 46 patients investigated for constipation, 21 were found to have some other primary abnormality, leaving 25 patients for study: 6 had evidence of the outlet syndrome alone, 5 had slow transit constipation, 8 had both abnormalities and 6 had no apparent physiological disorder in the colon or rectum. Although ...

Five patients are reported with Warburg's syndrome, characterized by: (1) congenital hydrocephalus, (2) severe neonatal neurological dysfunction, (3) abnormalities of the anterior and posterior chambers of the eyes, (4) absence of known cause, and (5) severe developmental abnormalities of cortical gyration and architectonics. Fourteen similar published cases are reviewed. The ...

Lissencephaly (smooth-brain) is an abnormality of brain development characterized by incomplete neuronal migration and a smooth cerebral surface. At least 2, and possibly more, distinct pathological types occur, each associated with several distinct syndromes. In this paper, the manifestations of 3 disorders associated with type I (classical) lissencephaly are discussed, ...

Two unrelated infants with delayed development and suspected abnormalities of the upper limbs were found to have the Coffin-Lowry syndrome. Both had marked fullness of the forearms in the presence of normal skeletal structures which resulted from increased subcutaneous fat. Although initially misleading, the forearm changes may serve as an ...

A complex syndrome consisting of locomotor hyperactivity and a cervical choreoathetoid dyskinesia was produced in rats after 7 to 10 days administration of 3-3 -iminodipropionitrile. Attenuation of motor abnormalities after lesions of the basal ganglia (BG) but not cortical lesions suggests the importance of descending BG influences in this syndrome. ...

Neurophysiological investigations of a patient suffering from the stiff-man syndrome revealed that exteroceptive reflexes, in particular those elicited from the skin, were excessively enhanced. In contrast, no abnormalities were found within the monosynaptic reflex arc. Clomipramine injection severely aggravated the clinical symptoms whereas diazepam, clonidine, and tizanidine decreased both muscular ...

We report on two Brazilian sibs whose parents are first cousins with clinical findings of the Tel Hashomer camptodactyly syndrome, namely, camptodactyly, muscle hypoplasia, skeletal abnormalities, and abnormal palmar creases. Both affected sibs have flat orbital roofs not described in previous cases and a high number of dermatoglyphic arches. The ...

A new pedigree with 9 obligate and 10 probable female carriers of the X-linked mixed deafness syndrome is presented. In the male the syndrome is characterized by a perilymphatic gusher during stapes surgery, a severe progressive mixed hearing loss and lack or strong reduction of vestibular responses. Four of the ...

Five women with Marfan syndrome had abnormalities of the sacrum disclosed by computed tomography. Each had evidence of expansion of the central sacral spinal canal and enlargement of sacral foramina associated with extensive bony erosion. Three patients complained of low back pain, two were asymptomatic. Sacral meningoceles were demonstrated in ...

The eyes of three infants with cerebrohepatorenal disease (Zellweger's syndrome) who died demonstrated ganglion cell loss, gliosis of the nerve fiber layer and optic nerve, optic atrophy, and changes resembling those of retinitis pigmentosa in the retina and pigment epithelium. Ultrastructural examination showed bileaflet inclusions identical to those seen in ...

A patient with hyperviscosity syndrome was noted to have an abnormal liver radionuclide scan. Ultrasound and normalization of the liver scan after plasmapheresis confirmed the non-neoplastic nature of the patchy labeling defects. This case suggests a new cause for labeling abnormalities on liver radionuclide scans in patients with a syndrome ...

Abnormal widening of cortical sulci as seen in posttherapeutic cranial computed tomography (CCT) of 64 children in complete continuous remission (CCR) of acute lymphoblastic leucemia (ALL)/non Hodgkin's lymphoma (NHL) was related to patient data and neurological complications during the application of West Berlin treatment protocol. Age and neurological/neurodevelopmental findings of ...

We report on a 7 1/2-year-old boy with macrocephaly, hamartomatous intestinal polyps, and café-au-lait spots on the penis. These abnormalities were reported in two other individuals thought to have the Sotos syndrome. We think that this triad of abnormalities represents a new disorder, the Ruvalcaba-Myhre-Smith syndrome. Prominent Schwalbe lines, prominent ...

Male patients displaying an immotile or almost immotile sperm population are the object of an interdisciplinary study concerning a ciliary mutant that induces the "Immotile-Cilia Syndrome". Development and function of both sperm flagella and cilia are normally affected because of disturbances of the 9 + 2-arrangement. During this program, clinical, ...

Using the formaldehyde-induced fluorescence method, we found a peculiar rosary-type swelling of the adrenergic axons in the peripheral nerves, deficiency of the perivascular adrenergic plexuses in the visceral and cerebral arteries, and reduction of noradrenergic fluorescence in the tegmental and hypothalamic regions of a 3-year-old boy who had typical Menkes' ...

In the past 5 years much has been learned about the syndrome of ciliary dyskinesia, commonly referred to as immotile cilia syndrome. This syndrome appears to be a congenital defect in the ultrastructure of the cilia, which results in one of three basic defects; lack of dynein arms, absence of ...

Miller-Dieker syndrome, which includes lissencephaly and a characteristic phenotypic appearance, has been reported to have an autosomal recessive pattern of inheritance. However, we have found abnormalities of chromosome 17 in two of three unrelated patients with this syndrome, one with a ring chromosome 17 and the other with an unbalanced ...

A patient, with Papillon-Lefèvre syndrome, presented with a premature loss of both deciduous and permanent teeth and hyperkeratosis palmaris et plantaris. Other abnormalities such as psoriasiform hyperkeratosis, calcification of the falx, and frequent infections can be seen. Although no etiologic factor is known for this aberration, an autosomal recessive inheritance ...

We describe a baby with external and internal anomalies of the Majewski form of the short rib-polydactyly (SRP) syndromes. Previously unreported abnormal vertebral bodies, delayed ossification of the sternum and fibulae, and a diencephalic hamartoma are noted. These abnormalities and minimal histologic abnormality at the chondro-osseous junction suggest that this ...

Corneal tissues of four persons and a buccal fibroma from one of these persons with ACL syndrome, an autosomal dominant disorder, were evaluated clinically and microscopically. The corneal lesions appeared as a gray epithelial infiltrate over the cornea, destroying Bowman's membrane. Light and electron microscopic images of both types of ...

The snapping finger condition has increased recently. And this condition is difficult to recover in most cases. The snapping finger condition was improved quite remarkably by the rehabilitation (Reha) of the leison performed immediately after acupuncture in the symmetrical part of the leison on the normal side and Chu-chih (LI-11), ...

The crossed immunoelectrophoretic pattern of 62 eyes was reexamined, and 6 cases were selected for their abnormal patterns that demonstrated the presence of glycosaminoglycans in aqueous humor. Three of these cases were exfoliation syndrome, one was pigment liberation syndrome, and the other two were rhegmatogeneous retinal detachment. The abnormal electrophoretic ...

Analysis of cephalometric radiographs of 12 children with fetal alcohol syndrome corroborated the clinical observation of midfacial deficiency described in patients with this disorder. Contrary to previous reports, however, our data show that this abnormality is not caused by true maxillary hypoplasia but by retrusion of the maxilla. We postulate ...

A boy with mitochondrial cytopathy and neuropathological changes of subacute necrotizing encephalopathy is reported. Conditions with abnormal mitochondria in muscle and/or brain are reviewed and the role of mitochondrial abnormalities in spongiform encephalopathies is discussed. It is suggested that electronmicroscopical and histochemical investigations of muscle tissue would be of value ...

Purine overproduction, with normal levels of the purine salvage enzymes, has been found in a 3-year-old boy and his mother. Both have high-frequency hearing loss from infancy. The child is hypotonic and shows locomotor delay. Two male siblings with similar neurodevelopmental problems died in early childhood. Biochemical studies suggest a ...

Breathing abnormalities in patients affected by acute cerebral damage are herein studied as neurological signs of localizing value for the neurological diagnosis of the level of the lesion. Incidence and types of abnormal breathing pattern correlate with neurological syndromes, and in a given neurological syndrome the presence of these alterations ...

One phenotypic expression of the Chediak-Higashi syndrome in humans and the analogous disorder in the beige mouse (C57BL/6bg/bg) is the presence of anomalous lysosomes identifiable as enlarged cytoplasmic inclusions. This alteration has been used in the study of the circulation and source of certain mononuclear phagocytes in mice. In the ...

A family is described in which 2 siblings born to healthy parents presented with abnormal facies, persistent diarrhoea, and early death. Exhaustive pathological and biochemical investigations failed to find a cause. The scalp hair of both babies had an abnormal amino-acid composition, and presented an appearance that was unique on ...

Mutual correction of co-cultivated fibroblasts from patients with Hunter's and Hurler's syndrome could be inhibited by either fructose 1-phosphate or mannose 6-phosphate. In the presence of fructose 1-phosphate a 50% mixture of fibroblasts from a patient with Hunter's syndrome and a normal homozygous individual showed an increased 35S-sulphate incorporation into ...

Abnormalities in esophageal function were identified in seven children with Down's syndrome. Three had recurrent episodes of pneumonia from gastroesophageal reflux; two of these and one other patient had esophageal strictures. Two patients with Down's syndrome revealed no evidence of gastroesophageal reflux but did show significant abnormalities in esophageal peristalsis. ...