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Results for “Musculoskeletal Abnormalities”

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PubMed1991

Late effects of childhood malignancies seen in Western Australia.

Eighty-nine pediatric oncology patients, in remission and off treatment for at least 4 years, were reviewed annually in the Late Effects Clinic of Princess Margaret Hospital for Children in Perth, Western Australia. Interval from time of diagnosis to follow-up ranged from 4 to 23 years (mean 10.8 years). Acute lymphoblastic leukemia (ALL) (40%) and Wilms' tumor (27%) were the most common primary malignancies in this group. Late sequelae included musculoskeletal abnormalities (23 children), growth hormone deficiency (11), second tumors (9), learning difficulties (7), puberty and fertility problems (4), and hypothyroidism (4). These complications were most often related to radiation therapy. The need for prolonged, regular follow-up of survivors of childhood malignancy for early detection of late sequelae and subsequent intervention is stressed.

Adolescent↗

PubMed2003

Clinical, clinicopathologic, and radiographic findings in dogs with coccidioidomycosis: 24 cases (1995-2000).

OBJECTIVE: To determine clinical, clinicopathologic, and radiographic abnormalities in dogs with coccidioidomycosis. DESIGN: Retrospective case series. ANIMALS: 24 dogs. PROCEDURE: Clinical information and results of clinicopathologic testing were obtained from medical records. Thoracic radiographs were reviewed to characterize abnormalities. RESULTS: Dogs ranged from 1 to 10 years old at the time of diagnosis, with 12 dogs being between 1 and 3 years old. Historical complaints included cough, lameness, signs of head or neck pain, and difficulty breathing. Mild anemia, neutrophilia, and monocytosis were common. All dogs had hypoalbuminemia, and 8 of 15 had hyperglobulinemia. Thoracic radiographs of 19 dogs were reviewed. Pulmonary infiltrates were seen in 13 dogs, with an interstitial pattern of infiltration being most common. Hilar lymphadenopathy was seen radiographically in 10 dogs. Serum from 20 dogs was tested for antibodies against Coccidioides immitis. One dog was positive for IgM antibodies, 5 were positive for IgM and IgG antibodies, and 14 were positive for IgG antibodies. Quantitative IgG titers measured in 14 dogs ranged from 1:2 to 1:128 (median and mode, 1:32). In 6 dogs, histologic examination of biopsy samples revealed fungal spherules ranging from 8 to 70 microm in diameter. CONCLUSIONS AND CLINICAL RELEVANCE: Results suggest that in dogs, coccidioidomycosis may be associated with a wide spectrum of nonspecific respiratory and musculoskeletal abnormalities. The chronic nature of the disease makes diagnosis difficult, even in regions in which the organism is endemic.

Age Factors↗

PubMed1996

Effects of vibration on the hand-arm system of miners in India.

Sixty-six Jackhammer drillers and 35 blasters from two mines were clinically screened for hand-arm vibration syndrome (HAVS). The screening consisted of questionnaire-based information, clinical examination including measurement of phalangeal circumferences of fingers (FCT) and motor nerve conduction (MCV) studies. In a warm environment, the prevalence of symptom complexes suggested the existence of peripheral neuropathy and musculoskeletal abnormalities rather than any peripheral circulatory disorders. Clinical examination revealed soft tissue wasting in the hands (26 cases), ulnar nerve impairment (23 cases), median nerve impairment (16 cases) and Dupuytren's contracture (4 cases). Mean motor nerve conduction velocities of 59 out of 66 drillers who volunteered for this assessment were not significantly different from those of the 35 blasters. The results of their correlation coefficients varied considerably for MCVs when age and years of vibration exposure underwent regression analysis. However, comparison of MCV and FCT of 30 drillers with 30 matched blasters revealed that the mean MCV of the right median nerve in the vibration exposed group was significantly decreased (p < 0.01) and for the mean FCT, the proximal phalanxes of the right index finger, left thumb and left ring fingers were thinner in the vibration exposed group (p < 0.05).

Adult↗

PubMed1978

Malignant hyperthermia and central core disease in a child with congenital dislocating hips.

We describe a development of a malignant hyperthermia (MH) syndrome, partially aborted by therapy, in a child with central core disease and congenital dislocating hips. Patients with central core disease appear to be more susceptible to MH; possibly those with elevated serum creatine phosphokinase levels, as in our patient, are especially susceptible. We review the clinical and pathologic aspects, possible pathogenesis, and treatment of the MH syndrome. An increased calcium level within the muscle fiber is suggested as the major cytodestructive factor, and that increase could be consequent to a plasmalemmal susceptibility to the provoking drugs hypothesized to be the basic defect in MH. Prevention of the full manifestations of MH is predicated on (1) a high index of suspicion in the search for history of anesthetic complications in the patient and his family, with or without evident neuromuscular disease, (2) recognition that there is a somewhat greater risk of MH developing in a patient who has certain "musculoskeletal" abnormalities or muscle weakness but that is not-except for central core disease-a classic clinicopathologically defined disease, (3) close monitoring of patients during anesthesia, and (4) if the syndrome develops, prompt therapeutic measures, including cessation of anesthesia.

Adult↗

PubMed1996

Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2.

Kabuki syndrome (KS) or Niikawa-Kuroki syndrome is a sporadic disorder characterized by postnatal growth retardation, developmental delay, mild to moderate retardation, and a characteristic facial appearance. Cardiovascular defects, clefts of the lip, palate, or both, and musculoskeletal abnormalities occur in about 50% of patients with KS. The cause of this multiple congenital anomaly syndrome is unknown, and investigators have speculated that KS is a contiguous gene-deletion syndrome. Based on the presence of congenital heart defects in patients with KS, it was suggested that this disorder might share a common cause with the 22q11 deletion syndromes. A preliminary study of 2 patients with KS failed to detect a deletion within 22q11. We report the results of fluorescence in situ hybridization with cosmid probes for loci D22S75 (N25) and D22S259 (R32) within the DiGeorge chromosomal region (DGCR) on metaphase spreads from an additional 5 patients, 2 non-Japanese and 3 Japanese, with KS. None of the 5 had deletions at either locus. It is unlikely that KS is caused by a deletion within 22q11.

Abnormalities, Multiple↗

PubMed1991

Late effects of treatment for Wilms' tumor. A report from the National Wilms' Tumor Study Group.

The National Wilms' Tumor Study (NWTS) was initiated in 1969. One of its objectives was to modulate treatments according to risk factors to minimize the number and severity of treatment-related short-term and long-term iatrogenic complications. The NWTS has therefore incorporated a Long Term Follow-up Study (LTFS) within its framework to monitor late effects. The LTFS is confined to relapse-free survivors alive 5 years or longer after initial surgery, and data are collected using specifically designed forms. A total of 787 patients registered on NWTS-1 or NWTS-2 (1969 to 1979) were eligible, of whom 680 (86%) were available for analysis regarding musculoskeletal, cardiovascular, and neuropsychologic status, and the presence of benign and malignant tumors. Patients with early-stage disease who were treated with radiation had scoliosis reported, along with other musculoskeletal abnormalities (32 versus 2), nearly seven times as often as did the members of the cohort population who did not undergo radiation (35 of 57 versus 5 of 53, respectively). The difference in cardiovascular problems recorded in survivors who did and did not receive Adriamycin (Adria Laboratories, Columbus, OH) (2.4 versus 1.1 per 100-person years at risk) had borderline statistical significance (P = 0.06). No excess in neuropsychologic events was reported for those given the neurotoxin vincristine. When considering patients with disease of all stages, all 5 second malignant tumors occurred in the 623 patients who underwent radiation (RT patients); benign tumors were also more frequent in RT patients than in those patients who did not undergo radiation (41 of 486 or 8% versus 4 of 194 or 2%). Continuing study of this unique body of patients is needed, especially for those given Adriamycin, because of the known long interval needed for latent cardiomyopathy to become clinically manifest in some patients.

Cardiovascular Diseases↗

PubMed1986

Prevalence of mitral-valve prolapse in the Stickler syndrome.

An increased prevalence of mitral-valve prolapse occurs in several connective tissue dysplasias, including Marfan syndrome, Ehlers-Danlos syndrome, and pseudoxanthoma elasticum. We evaluated 57 patients diagnosed as having the Stickler syndrome for mitral-valve prolapse by auscultation and two-dimensional echocardiography. The diagnosis was made on the basis of craniofacial and musculoskeletal abnormalities, sensorineural hearing loss, eye defects, and a family history of Stickler syndrome. Twenty-six patients (45.6%) had mitral-valve prolapse, including 11 of 22 females (50.0%) and 15 of 35 males (42.9%). The age range of our study population was 4 to 60 years. Prevalence of mitral-valve prolapse did not increase with age. Nine patients (34.6% of those with mitral-valve prolapse) had the click-murmur syndrome; only one of them was symptomatic. Because of the growing list of complications associated with mitral-valve prolapse, all patients with Stickler syndrome should be evaluated by auscultation, electrocardiogram, and echocardiography. Those with mitral-valve prolapse should be advised to have periodic follow-up and to instruct physicians caring for them of their need for antibiotic prophylaxis with certain surgical procedures.

Adolescent↗

PubMed1987

Wrinkly skin syndrome: phenotype and additional manifestations.

The wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.

Abnormalities, Multiple↗

PubMed1995

Mutations in PAX3 that cause Waardenburg syndrome type I: ten new mutations and review of the literature.

Waardenburg syndrome (WS) is an autosomal-dominant disorder characterized by sensorineural hearing loss, dystopia canthorum, and pigmentary disturbances, and it represents the most common form of inherited deafness in infants. WS type I is characterized by the presence of dystopia canthorum, while individuals with WS type II have normally-located canthi. WS type III is similar to WS type I but is also characterized by musculoskeletal abnormalities. Defects in the PAX3 gene, a transcription factor expressed during embryonic development, have been shown to cause WS types I and III in several families. In contrast, mutations in PAX3 do not cause WS type II, and linkage of the disease to other chromosomal regions has been demonstrated. We describe 10 additional mutations in the PAX3 gene in families with WS type I. Eight of these mutations are in the region of PAX3, where only one mutation has been previously described. These mutations, together with those previously reported, cover essentially the entire PAX3 gene and represent a wide spectrum of mutations that can cause WS type I. Thus far, all but one of the mutations are private; only one mutation has been reported in two apparently unrelated families. Our analysis thus far demonstrates little correlation between genotype and phenotype; deletions of the entire PAX3 gene result in phenotypes indistinguishable from those associated with single-base substitutions in the paired domain or homeodomain of PAX3. Moreover, two similar mutations in close proximity can result in significantly different phenotypes, WS type I in one family and WS type III in another.

Amino Acid Sequence↗

PubMed2003

Homozygous and heterozygous inheritance of PAX3 mutations causes different types of Waardenburg syndrome.

Type I Waardenburg syndrome (WS-I) is an auditory-pigmentary syndrome caused by heterozygous loss of function mutations in the PAX3 gene. Klein-Waardenburg syndrome (WS-III) is a very rare condition and represents an extreme presentation of WS-I, additionally associated with musculoskeletal abnormalities. We present an 18-months old Turkish child with typical Klein-Waardenburg syndrome (WS) including dystopia canthorum, partial albinism, and upper-limb defects. The child was born to a consanguineous couple and both parents had WS-I. We screened the entire coding region of the PAX3 gene for mutations and identified a novel missense mutation, Y90H, within the paired box domain of PAX3. Both parents were heterozygous for the mutation and the proposita was homozygous. This is the third report of a homozygous PAX3 mutation causing the WS-III phenotype. Molecular analysis of four additional Turkish families with variable clinical expression of WS-I identified two missense mutations, one splice-site mutation, and one small insertion in the PAX3 gene.

Adult↗

PubMed1979

Partial duplication of the long arm of chromosome 5: a case due to balanced paternal translocation and review of the literature.

A partial duplication of the distal segment of the long arm of chromosome 5 (q31 leads to qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24). The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.

Abnormalities, Multiple↗

PubMed1990

Fanconi syndrome, ichthyosis, dysmorphism, jaundice and diarrhoea--a new syndrome.

We describe six infants, from consanguineous marriages, with a new syndrome comprising the Fanconi syndrome, ichthyosis, musculoskeletal abnormalities, jaundice and diarrhoea. In addition two of the infants were found to have abnormal platelet morphology--the grey platelet syndrome. No evidence of a recognised metabolic disorder was found in any of the six infants, nor did they appear to be typical of any previously described syndromes. Their progress was poor: they required high fluid and bicarbonate intakes and all died by the age of 6 months of dehydration, acidosis and sepsis.

Abnormalities, Multiple↗

PubMed1976

Screening of malignant hyperthermia susceptible families by creatine phosphokinase measurement and other clinical investigations.

We investigated 56 families afflicted with malignant hyperpyrexia. One hundred and twenty-four individuals within these families had had an episode of malignant hyperthermia, of whom we saw seventy-two. Serum creatine phosphokinase (CPK) was statistically higher in affected individuals and in close relatives than in normal volunteers. The magnitude of the serum CPK elevations varied significantly between families. While in some families the serum CPK was clearly elevated in affected individuals, in other families the serum CPK was normal or only moderately or inconsistently raised. In these latter families serum CPK measurement was therfore of little or no value in identifying afflicted members. The incidence of musculoskeletal abnormalities was greater in affected individuals and in close relatives than in the general population. Thus, the concomitant individual belonging to a family known to be susceptible to malignant hyperthermia was a better indicator of the MH trait than was the presence of only one of these parameters. For reasons which we do not fully understand, MHS individuals were found to require fewer anaesthetics than normal persons. The incidence of MH crises within each family fell significantly following investigation, counselling, and issuance of Medic-Alert bracelets.

Creatine Kinase↗

PubMed2005

Anesthetic management of children with Moebius sequence.

BACKGROUND: Moebius sequence is a rare congenital absence of the sixth and seventh cranial nerves, although there may be additional congenital cranial neuropathies. Developmental delay, cardiac and musculoskeletal abnormalities may also co-exist. Oro-facial manifestations include bilateral facial nerve palsy resulting in a mask like facies, drooling, incomplete eye closure, and strabismus secondary to the extra-ocular muscle imbalance. This condition has multiple implications for anesthetic care. METHODS: We reviewed 111 anesthesia records of 46 patients with Moebius sequence for anesthesia technique and related complications. RESULTS: Facial nerve palsy was universally present and bilateral in 44 (93.6%) patients. Thirty-two (68%) had concomitant sixth nerve palsy. Oro-facial and limb abnormalities were present in 16 (35%) and 18 (39%) of patients respectively. Endotracheal intubation, when attempted, was easy in 76 of 106 cases. Tracheal intubation was consistently difficult in seven patients and intubation failure occurred in a single patient only. Statistically significant factors associated with difficult tracheal intubation included structural abnormalities of the mandible and palate and abnormalities of four cranial nerves (IX, X, XI, XII). CONCLUSION: We confirm that tracheal intubation may be difficult in patients with Moebius sequence. We identify disease features that might predict a difficult tracheal intubation and thus allow the anesthesiologist an opportunity to plan accordingly.

Abducens Nerve↗

PubMed2000

Cutis tricolor: congenital hyper- and hypopigmented lesions in a background of normal skin with and without associated systemic features: further expansion of the phenotype.

UNLABELLED: The term cutis tricolor describes the uncommon co-existence of congenital hyper- and hypopigmented macules, in close proximity to each other, in a background of normal skin so far seen in a 17-year-old patient with various other congenital defects. The suggested explanation for this phenomenon is allelic twin spotting. We report on two boys, aged 6 and 11 years, with an unusual combination of three different degrees of pigmentation, one of whom had in addition, psychomotor delay, dysmorphic features, musculoskeletal abnormalities and subcortical and periventricular white matter high signal lesions on brain neuroimaging. In both cases a search for mosaicism in peripheral blood lymphocytes and cultured fibroblasts was negative. In contrast to the previously reported case, the two children had large streaks or patches of hyper- and hypopigmented skin lesions, in close proximity to each other, involving large areas of the body. The rest of the skin had a normal intermediate pigmentation. CONCLUSION: This combination of three degrees of pigmentation in association with systemic defects in one child and the lack of such association in the other confirms and further expands the clinical phenotype of cutis tricolor.

Brain↗

PubMed2004

Structural manifestations of mitochondrial dysfunction in skeletal muscles of early aging OXYS rats.

Changes in the mitochondrial compartment are the central element in the morphogenesis of musculoskeletal abnormalities in early aging OXYS rats. Compensatory hyperplasia and hypertrophy with enlargement of the working surface area are seen in these organelles at the age of 2 months. The mitochondria are characterized by polymorphism, compact packing of cristae. By the age of 9 months destructive changes and sharp reduction of the mitochondrial compartment are observed is many myocytes. Disorders in the mitochondrial structure and function and oxidative stress can be among the causes of degenerative changes in the myofibrillar system and other structures of muscle fibers, including those resultant from activation of apoptosis.

Aging↗

PubMed2001

Chronic daily headache in children and adolescents.

Chronic daily headache (CDH), an almost continual headache in the absence of organic pathology, is an exceptionally challenging type of headache to treat in children and adolescents. CDH has different expressions in children and adults; the different expressions may reflect several different etiologies or a developmental continuum. Although a positive family history predisposes children to develop headache, many environmental, biological, and psychological processes may share a role in the etiology. To date, no studies have examined the pathophysiology of CDH in children so that our understanding is presumed, rather than documented, and based primarily on extrapolation from adult studies. For some cases with migraine features, presumed mechanisms include a neurogenic inflammatory cascade, vascular reactivity, and serotonin, whereas for other cases, mechanisms may include pericranial muscle tenderness or musculoskeletal abnormalities, as noted recently for adults. A skilled and careful history is the first step to ensuring an accurate diagnosis for children with CDH. Pain assessment is an integral component of diagnosis and treatment. We need an objective measure of headache activity and an understanding of the factors that cause or exacerbate headaches for an individual child. Although many drug and nondrug therapies are available for treating children's headache, we lack data about which therapies are best for children with CDH or its subtypes. The current principles guiding our management of CDH in children and adolescents are extrapolated from the existing literature on childhood headache, CDH in adults, and our clinical experience. A child-centered focus is particularly important in the treatment of CDH because it is not caused by an underlying disease or disorder.

Adolescent↗

PubMed1985

Diamond-Blackfan syndrome in adult patients.

Two adults with pure red cell aplasia are described. No extrinsic etiologic mechanisms were identified. Evidence of anemia was long-standing and varied in severity. Musculoskeletal abnormalities (webbed neck, Sprengel's and Klippel-Feil deformities, and hand abnormalities) were similar to those seen in the congenital form of red cell aplasia (Diamond-Blackfan syndrome). As in the congenital variety, adrenal cortical steroids resulted in hematologic repair. These observations suggest that congenital (Diamond-Blackfan) pure red cell aplasia may be first recognized in adulthood and that steroids provide a potential therapeutic modality.

Adult↗