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PubMed1990

Heterozygous expression of Lesch-Nyhan syndrome clinical and ultrastructural studies.

The study comprised two cases (male & female sibs) from one family, with Lesch-Nyhan Syndrome. They were subjected to clinical evaluation, pedigree construction, uric acid estimation in blood, urates in urine, metabolic screening of blood and urine for amino acids, examination of oral cavity, histological studies of the gingiva by light and electron microscopy as well as buccal smear for Barr & Y bodies (for the female). The proband, a six years old female presented with self-mutilation, mental retardation, hyperactivity and aggression. She had bitten her index finger causing amputation of its distal phalanx. On family study her younger brother (9 months) was found to have increased uric acid and less severe neurologic involvement. The serum uric acid level of the affected female was higher. Her Barr body showed normal pattern. Oral cavity examination showed no abnormalities. Histological examination of the gingiva showed macrophages around the blood vessels. Ultrastructural studies showed more or less normal epithelium. There was collection of macrophages around the blood vessels in the sub-epithelial layer, the cytoplasm of these macrophages contained stippled cytoplasmic inclusions. The surrounding connective tissue showed thin collagen fibers with sharp delineation between the epithelial and connective tissue layers indicating poor quality of collagen. There was no histological difference between the hemizygous male and the heterozygous female. The present study indicates heterozygous expression of Lesch-Nyhan Syndrome at both the clinical and the ultrastructural levels in favour of extreme lyonization or X-chromosome deletion in the affected female. Our findings also indicate that ultrastructural studies could be sensitive indicators of abnormal uric acid metabolism. Further studies are needed to compare the phenotypic expression of hemizygotes and heterozygotes with Lesch-Nyhan Syndrome at both the clinical and ultrastructural levels.

Child↗
PubMed1990

A severe form of breakdown in communication in the psychoanalysis of an ill adolescent.

The paper focuses on a particularly severe kind of breakdown in communication that can arise in the psychoanalysis of ill adolescents who have experienced a real breakdown in functioning, such as a severe suicide attempt or one or more psychotic breakdowns. Clinical material is presented from the analysis of a suicidal and self-mutilating adolescent as an illustration of the theme. Included is a discussion of different types of breakdown in communication.

Adolescent↗
PubMed1990

[Factitious purpura].

Three identical case histories consisting of circular delimited petechial purpura around the mouth and chin in children aged 13-15 years are presented. This form of purpura was undoubtedly due to self-mutilation by establishing of a vacuum over the skin produced by a tumbler from which the air had been partially aspirated. This is regarded as a symptom of hysterical conversion on account of stressing conditions at home or in school. Strategies for making the patient and the parents aware of the causal connection and the possibilities for intervention are mentioned.

Adolescent↗
PubMed1985

"Your feet's too big": an inquiry into psychological and symbolic meanings of the foot.

The foot is a highly cathected appendage that is commonly singled out as the brunt of humorous or derisive remarks, as if it embodies repugnance and disgust. Attitudes toward the foot are overdetermined, bearing the imprint of man's early linguistic patterns and individual dynamics. This article suggests that feet are symbolic because they bear the feelings derived from earlier separations, good and bad object representations, collective memories, and genital representations. The foot's role as symbol of both the male and female genitals, repository of badness, symbol of passivity, initiator of movement, and site of self-mutilation have been briefly reviewed. As Fats Waller rhapsodizes that the "feet's too big," he finds a convenient way to displace his symbiotic and erotic anxieties vis-à-vis women. Similarly, patients who come for psychiatric treatment and psychotherapy frequently make references to their feet or use them in specific ways. An understanding of this type of communication can often provide insight into individual dynamics and enhance treatment. The weight placed on these communications depends, of course, on the vicissitudes of the previous therapeutic work as well as on the particular problems of the patient.

Adult↗
PubMed1986

[Cornelia de Lange syndrome (I) with analgesia].

The case of a boy, observed from 9-17 years of age, with de Lange syndrome is described. The typical symptoms of the de Lange syndrome (brachymicrocephalie, characteristic face, hypertrichosis, typical form of the hand, debility and proportioned shortening) were combined with intensivity to pain and psychomotoric epilepsy. He showed a strikingly aggressive behaviour and simultaneous masochism with self-mutilation as it is typical for analgesia congenita. The autopsy showed cortical heterotopias of the brain and slight microgyria.

Adolescent↗
PubMedDate not supplied

Congenital insensitivity to pain with anyhydrosis: morphological studies of skin and peripheral nerves.

Two male siblings born to consanguineous parents, with the diagnosis of congenital insensitivity to pain with anhydrosis are evaluated. The patients presented with unexplained bouts of fever, self-mutilation, repeated trauma and inability to sweat. Physical examination revealed both siblings to be insensitive to pain and temperature. The electron microscopic study of the skin was unremarkable whereas sural nerve biopsies yielded an essential lack of unmyelinated fibers.

Child, Preschool↗
PubMed1989

[A cause of multiple failures in autoplasties: cutaneous pathomimesis].

The authors report a case of cutaneous pathomimesis of the hand with severe self-mutilation, contrasting with the minimal nature of the psychiatric illness. They recall several pathogenic and therapeutic elements for this disease which, although difficult, should be managed by a multidisciplinary approach.

Adult↗
PubMed1989

[Effects of muscimol on aggressive behaviors induced by clonidine in mice].

A behavioral study was carried out to clarify a relationship between the GABAergic and purinergic central system in aggressive behaviors induced by clonidine in mice. Mice administered a high dose of clonidine (20 mg/kg, i.p.) exhibited aggressive behaviors such as biting and attacking. These behaviors are inhibited by L-PIA (N6-L-phenylisopropyl adenosine) and stimulated by caffeine, which suggest that a blockade of adenosine receptors is involved in these behaviors. Muscimol (0.5-2 mg/kg, i.p.), a GABA-a receptor agonist, not only markedly potentiated clonidine (20 mg/kg i.p.)-induced aggressive behaviors but also elicited characteristic behaviors such as gnawing, reinforced irritability, and self-mutilation. Bicuculline (1, 2 mg/kg, i.p.), a GABA-a receptor antagonist, or picrotoxin (1 mg/kg, i.p.), a chloride channel blocker, did not significantly affect clonidine (20 mg/kg, i.p.)-induced aggressive behaviors. The potentiating effects of muscimol (0.5, 1 mg/kg, i.p.) on clonidine-induced aggressive behaviors were antagonized by bicuculline (1, 2 mg/kg, i.p.), but not affected significantly by picrotoxin (1 mg/kg, i.p.). L-PIA (0.2 mg/kg, i.p.) reduced clonidine-induced aggressive behaviors and also reversed the potentiating effects of muscimol. Stereotyped gnawing behaviors induced by combined treatment of muscimol (0.5, 1 mg/kg, i.p.) and clonidine (20 mg/kg, i.p.) were not affected by bicuculline (2 mg/kg, i.p.). The results suggest that the potentiating effects of muscimol on clonidine-induced aggressive behaviors may be induced via the stimulation of GABA-a receptors, although not necessarily associated with chloride channel functions, and may involve certain interactions between the stimulation of GABA-a receptors and the inhibition of adenosine receptors.(ABSTRACT TRUNCATED AT 250 WORDS)

Aggression↗
PubMedDate not supplied

Alcohol intoxication in teenagers using inhalant stupefacients.

The study was carried out 11 boys, 12-17 years old, treated in the Therapeutic-Educational Guidance Center for the Young because of using inhalant stupefacients and incliniation to alcohol abuse. The inhalant stupefacients were taken for a period of 6 months to three years, of alcohol--from 6 months to 2 years. The most common inhalant stupefacients were "Butapren" glue, trichlorethylene and "Roxy" fluid; wine and vodka were the alcohols used. No one patient displayed the full dependence syndrome, most of them (83%) had organic CNS damage, in 63% pathological EEG changes were recorded. The alcohol inebriation was accompanied by marked psychomotor excitation with cognitive disturbances, aggressiveness, anxiety, self-mutilation. One patient developed visual illusions and hallucinations. The findings suggest that the consequences of abuse of inhalant stupefacients significantly influence the syndrome of alcohol intoxication, potentiating the psychopathological signs.

Adolescent↗
PubMed1989

[A neurologic model of early infantile autism].

Based on the abnormalities in sleep-wakefulness cycle of early infantile autism, the author discussed its pathophysiology focusing on its main lesion in the raphe nuclei. These neurons, located in the midline portion of the brainstem send their axons to various neurons of the upper and lower nervous systems, including the locus coeruleus and the dopamine neurons of the tegmentum, the former having a broad innervation and the latter a restricted area in the central nervous system. These monoaminergic neurons modulate the functions of the involved neurons and regulate their functional and structural maturation in the early developmental course. The early lesion of the raphe nuclei causes poor adaptation to environment which develops as abnormal circadian oscillation and pervasive lack of responsiveness. Combined hypofunction of the locus ceruleus, particularly of its dorsal bundle, results in the failure of extinction of acquired memory in mice which relates clinically to the excellent memory and resistance to change peculiar interests and attachments in humans. From early childhood, the disturbance of dopaminergic neurons becomes apparent clinically, and causes hyperkinesia and stereotyped activities. With the other two monoaminergic neurons, dopaminergic neurons cause occasional aggressiveness or self-mutilation. The latter behaviors are like those of pampered children and are simulated to "muricide" and "friendliness" observed in rats with these monoaminergic lesions. The particular language disturbance with echolalia is due to the right hemispheric dominance, which might have been caused by a delayed functional lateralization of the hemisphere resulting also from the delayed development of the circadian oscillation in infancy. The motor disturbances consisting of hypotonia and impaired locomotion might be due to decreased tonic innervations of the locus ceruleus and the raphe nuclei to the spinal locomotion center. CT examination of symptomatic autism showed the amygdala as one of the causative nuclei for the autistic behavior.

Animals↗
PubMed1986

The role of the HPRT gene in human disease.

Human HPRT deficiency leads to two major forms of human disease. Partial enzyme deficiency results in gouty arthritis, while an almost complete deficiency leads to the Lesch-Nyhan disease. The latter is characterized by severe neurological dysfunction in addition to gouty arthritis, including retardation, choreoathetosis and aggressive and compulsive self-mutilation. The biochemical basis for the neurological symptoms is not understood. The human and mouse cDNA (RNA copy) genes have been isolated and sequenced. In addition, the amino acid sequence of the human protein has been directly determined. The human and mouse proteins differ at 7 amino acids out of the total, (including the N terminal methionine, which is processed off during maturation) of 218. There are 42 out of 654 nucleotide differences between the human and mouse genes in the amino acid coding region. The mouse genomic structure has been determined. It has 9 exons and 8 introns with a total size of approximately 36 kb. The human gene is very similar with identical intron-exon junction points and approximately the same total gene size. Both mouse and human presumed promotor region at the 5' end, lack a recognizable promotor in the form of a "TATAA" box and are very G-C rich, though not the same. This may be a feature of most "housekeeping" genes. HPRT gene point mutations in three gouty arthritis and one Lesch-Nyhan patient have been identified by peptide sequencing. Six gross gene rearrangements have been identified in Lesch-Nyhan HPRT genes. However it is likely that most mutations are point mutations or small deletions. So far all gene mutations identified are different from all others. The gene has been engineered into retrovirus vehicles which allows its efficient introduction into a wide variety of cells, including mouse marrow stem cells. This may allow treatment of Lesch-Nyhan patients as a model of gene therapy.

Amino Acid Sequence↗
PubMed1989

[Who is left in the institutions? Some problems in connection with the process of deinstitutionalization].

The medical and psychiatric diagnoses of 168 clients aged 16 to 65 years in a Norwegian institution for the mentally retarded were registered together with medication, level of functioning, and types of problem behavior. Most of these clients (64.9%) were profoundly or deeply retarded, and only 6.5% were independent of continuous supervision or help. Medical diagnoses were found in 87.5%, psychiatric diagnoses in 89.1% (DSM-III, axis I). Daily use of medication was found in 81.0% of the clients, and 48.9% used psychotropic drugs on a daily schedule. 58.3% of the clients had exhibited violent behavior during the last year, defined as assaults on persons, self-mutilation or destructiveness. The article discusses the implications of these observations for primary health care, which is expected to supply the necessary service to these clients after 1991.

Adolescent↗
PubMed1987

Tattoos, body experience, and body image boundary among violent male offenders.

The author compared a measure of body image boundary and medically significant bodily experiences between 21 tattooed and 24 nontattooed men incarcerated for violent crimes. Although the tattooed and nontattooed subjects had no significant differences in their body boundary concepts or most other bodily experiences, the tattooed men were found to have a different distribution of scars on their bodies. Upon more detailed examination, it seemed that these different distributions could be explained by the observation that the tattooed subjects were the only ones with self-inflicted cuts. This finding further supports the notion that tattoos, despite their ostensibly decorative quality, may be a form of self-mutilation.

Adult↗
PubMed1987

Peripheral nerve injury associated with fracture or fracture-dislocation of the pelvis in dogs and cats: 34 cases (1978-1982).

Peripheral nerve injury was associated with fracture or fracture-dislocation of the pelvis in 23 dogs and 11 cats. In most cases, peripheral nerve injury resulted from ilial fracture with craniomedial displacement of bone fragments, or from sacroiliac fracture-dislocation with cranial displacement of the ilium. Sciatic nerve injury was associated with fracture of the acetabulum in 2 dogs. A combination of sensory, voluntary motor, and reflex abnormalities were observed in the ipsilateral extremity of affected animals. Signs of severe pain were noticed in 4 of the dogs and in 1 cat. Eight of the animals died or were euthanatized for reasons not directly related to the severity of peripheral nerve injury. Of the remaining 26 animals, 21 (81%) had good or excellent limb function 16 weeks after peripheral nerve injury was sustained. Limb function was lost or self-mutilation occurred in 4 (15%) of the animals.

Animals↗
PubMed1987

[Cranial computerized tomography in incomplete Lesch-Nyhan syndrome].

The CT brain scan of a 17-year-old patient with primary hyperuricaemia and mental retardation is presented. The examination demonstrates subcortical and cortical atrophy of the brain. The HGPRTase level was below normal. Clinical evidence of self-mutilation or tophi was not found. This patient's condition was interpreted as an incomplete Lesch-Nyhan syndrome.

Adolescent↗
PubMed1978

[Spectacles for dogs and cats (author's transl)].

Indications for using spectacles in dogs and cats are reviewed. These indications are classified into the following categories: (1) correction of visual acuity, (2) protection against external irritants such as ultraviolet rays and wind, (3) prevention of self-mutilation and (4) psychological reasons. The only justifiable indications for the use of spectacles or sun-glasses in dogs or cats consist in the treatment or prevention of some ophthalmic disorders.

Animals↗
PubMed1978

Youth in crisis: dimensions of self-destructive conduct among adolescent prisoners.

Self-mutilation and attempted suidcide among adolescent prisoners are explored in relation to concrete coping tests posed in prison and to self-esteem problems posed by failure of external (family) and internal (peer) support systems. Crisis sequences are traced using verbatim excerpts from interviews with self-destructive prisoners and conceptualized in terms of enduring adolescent needs and concerns. Some general observations regarding strategies of intervention with crisisprone prisoners are included.

Adjustment Disorders↗
PubMed1978

Ataxia and disorders of purine metabolism: defects in hypoxanthine guanine phosphoribosyl transferase and clinical ataxia.

A relationship between disordered metabolism of purines and the central nervous system has been established by the Lesch-Nyhan syndrome. In this disorder a virtually complete defect in the activity of HGPRT is associated with a syndrome of severe mental retardation, choreoathetoid cerebral palsy, and bizarre, self-mutilative behavior. In patients with partial defects in HGPRT, two have had symptoms that have been labeled spinocerebellar. Neither were appreciably ataxic, and the relationship between the symptoms and the enzyme defect remains to be established. Analysis of HGPRT in members of a large kindred with spinocerebellar degeneration revealed normal levels of the enzyme. These observations suggest that a relationship between the activity of HGPRT and clinical ataxia is remote.

Ataxia↗