1/16. Terminal 6q25.3 deletion and abnormal behaviour.A 10-year-old mentally retarded boy with terminal 6q25 deletion, dysmorphism and striking abnormal behaviour is reported. The main abnormal physical features recorded at different ages consisted of hydrocephalus, axial hypotonia, absence of spontaneous prehension, long face, synophris, hypertelorism with epicanthic folds, internal alternating strabismus, retinal abnormalities with macular degeneration, beaked nose, long philtrum, high-arched palate, lumbar spina bifida, right paravertebral dimple at the upper sacral region, prominent coccyx, broad thumbs and great toes, fetal pads and cryptorchidism. The special behavioural difficulties were made of restlessness, hyperactivity, obsessive compulsive reactions with a self-injurious tendency and episodes of apparently voluntary vomiting crisis concomitant with stress periods. A review of the available literature strongly suggests that individuals with small chromosomal deletions are at high risk of developing behavioural problems.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
2/16. Preserved neurobehavioral abilities in Lujan-Fryns syndrome.We present a patient with all the physical characteristics of Lujan-Fryns syndrome, including Marfanoid habitus, mild general hypotonia, hypernasal voice, normal testicular size, and distinct craniofacial anomalies. Despite the presence of impaired mental abilities in many areas, this young man showed intact concrete problem-solving skills under structured, interactive conditions. In addition, he did not demonstrate any of the psychiatric features that have often been reported with this syndrome. We conclude that Lujan-Fryns syndrome can be associated with partial preservation of neurobehavioral abilities.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
3/16. Chromosome 2q terminal deletion: report of 6 new patients and review of phenotype-breakpoint correlations in 66 individuals.We report a new patient with terminal deletion of chromosome 2 with breakpoint at 2q36 and five additional new patients with 2q terminal deletion with breakpoint at 2q37. Hemidiaphragmatic hernia is a novel finding in one patient with a breakpoint at 2q37.1. In comparing these patients to 60 previously reported individuals with 2q terminal deletions, certain physical abnormalities are loosely associated with positions of breakpoint. For example, facial features (e.g., prominent forehead, depressed nasal bridge, and dysmorphic ears and nose), short stature, and short hands and feet were frequent in patients with breakpoints at or proximal to 2q37.3. Reports of horseshoe kidney and wilms tumor were limited to patients with a breakpoint at 2q37.1, and structural brain anomalies and tracheal anomalies were reported only in patients with breakpoints at or proximal to 2q37.1. cleft palate was reported only in patients with the most proximal breakpoints (2q36 or 2q35). Neurological effects including developmental delay, mental retardation, autistic-like behavior, and hypotonia were typical in this patient population but did not stratify in severity according to breakpoint. Terminal deletion of the long arm of chromosome 2 should be considered in the infant with marked hypotonia, poor feeding, gastroesophageal reflux, and growth delay, and the older child with developmental delay, autistic behavior, and the characteristic facial and integumentary features described herein. Assignment of clinical features to specific breakpoints and refinement of predictive value may be useful in counseling.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
4/16. Multidisciplinary management of the airway in a trauma-induced brain injury patient.laryngomalacia occurs in some brain injury patients secondary to global muscle hypotonia. Surgical therapies for epiglottis prolapse have centered around removal or reshaping of the epiglottis. This approach has brought mixed success and frequent complications. We present a case that demonstrates successful nonsurgical treatment of a 33-year-old male brain injury patient with moderate obstructive sleep apnea that is believed to be a consequence of post-brain injury nocturnal epiglottis prolapse. The presence of a tracheostomy performed at the time of emergency surgery had become an emotional and physical barrier to our patient's recovery. The tracheostomy could only be reversed if the obstructive sleep apnea disorder could be managed in an alternative fashion. A titratable mandibular repositioning appliance was prescribed and its effectiveness was demonstrated with nasolaryngoscopy and polysomnography. After initially fitting the oral appliance, a period of accommodation and gradual protrusive adjustments was allowed. Subsequent confirmation polysomnography demonstrated improvement, but not suitable resolution, of disordered breathing events. However, an additional 1.25-mm protrusive titration of the oral appliance during the course of the confirmation polysomnogram led to therapeutic success. The patient's tracheostomy was subsequently reversed with significant quality of life benefits.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
5/16. Neonatal toxicity and transient neurodevelopmental deficits following prenatal exposure to lithium: Another clinical report and a review of the literature.I report the case of an infant girl who was exposed to lithium during gestation and her follow-up at the age of 1 year. She presented with transient neurodevelopmental deficits including lethargy, hypotonia, and poor oral feeding ability in the neonatal period. She required supportive treatment and made gradual improvement in neurologic functioning. On examination at the age of 1 year, physical findings and psychomotor development were normal. The English literature from 1978 to 2004 is reviewed. A total of 30 patients who were exposed to lithium during gestation with adequate clinical description were identified. A significant number of these babies presented with neurodevelopmental deficits and depressed neurological status including hypotonia, respiratory distress syndrome, cyanosis, lethargy, and weak suck and Moro reflexes in the neonatal period. The majority of these abnormalities resolved and most babies made full recovery. Other abnormalities were structural as well as functional involvement of the cardiovascular system, macrosomia, prematurity, jaundice, diabetes insipidus, and involvement of the thyroid gland. While the use of lithium during pregnancy does not appear to significantly increase the risk of congenital anomalies, it is frequently associated with perinatal complications and reversible neonatal toxicity. Suggested guidelines for appropriate monitoring of infants and breast-feeding of exposed babies are presented. In addition, prenatal surveillance of women with bipolar disorders who are being treated with lithium is briefly discussed.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
6/16. Polycystic kidneys and del (4)(q21.1q21.3): further delineation of a distinct phenotype.A three year-old boy was evaluated because of growth and developmental delay, hypotonia and dysmorphic features. G-banding analysis revealed a small interstitial deletion of the long arm of chromosome four described as 46,XY,del (4)(q21.1q21.3). This patient's findings on physical exam included relative macrocephaly, frontal bossing, short fingers with clinodactyly and were consistent with the phenotypes of previously reported deletions involving the 4q21--> 4q22 band region (Am. J. Med. Genet. 68 (1997) 400-405). To date there are 10 reported live-born cases with such deletions and similar features. The case reported here delimits a minimal critical region for this phenotype to chromosomal region 4q21. Our patient was also found to have cysts in both his kidneys. The gene for type II polycystic kidney disease (PKD2) has been mapped to chromosomal region 4q21--> 4q23. FISH analysis, with a probe including the PKD2 gene, demonstrated hemizygosity at this locus. Thus the absence of one of the PKD2 alleles in the case reported here is associated with early bilateral cyst development. kidney ultrasound/autopsy studies were reported in seven of the patients with the characteristic phenotype, and were positive for cysts in four cases including the one presented here (Clin. Genet. 31 (1987) 199-205; Am. J. Med. Genet. 68 (1997) 400-405; Am. J. Med. Genet. 40 (1991) 77-790. Our report supports the presence of a distinct phenotype associated with a deleted chromosomal region within 4q21. Hemizygosity for the PKD2 gene is likely in such deletions and may lead to renal cyst formation.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
7/16. hip instability in spinal cord injury patients.Seventeen children with spinal cord injuries that occurred before the age of 9 years were followed at the Alfred I. duPont Institute for a mean of 13.2 years (range 3-32 years). Fourteen of these patients (82%) developed subluxation or dislocation in one or both hips. patients with spastic spinal cord injury (SCI) developed hip flexion and adduction contractures and had symptoms that tended to mimic those of cerebral palsy. patients with flaccid SCI mirrored the "flail" hips of myelomeningocele. Pelvic obliquity occurred in spastic and flaccid children. Only one patient developed pain, and three had deformities suggesting avascular necrosis of the femoral head. At final follow-up, no patient had physical problems relating to the hip dysplasia.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
8/16. Posttraumatic syringomyelia associated with heavy weightlifting exercises: case report.Posttraumatic syringomyelia is a well-recognized late sequel to spinal trauma occurring in 1% to 3.2% of spinal cord injured patients. Its clinical presentation is usually marked by pain, ascending sensory loss, increased muscle weakness, and depressed deep tendon reflexes. The case of a 25-year-old man with C8 complete quadriplegia, who developed a syrinx five years after his initial injury, is presented. This patient kept a log of his daily physical workout which consisted of lifting weights of 50 to 60 pounds with his neck extensors and biceps. The diagnosis was made clinically and confirmed by magnetic resonance imaging. Repeated valsalva maneuvers from daily heavy weightlifting exercises most likely predisposed this patient to the development and extension of his syringomyelia. Dramatic improvement followed surgical placement of a subarachnoid shunt.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
9/16. Nephrogenic diabetes insipidus presenting with infantile hypotonia. A report of 2 cases.Nephrogenic diabetes insipidus usually presents with polyuria, polydipsia, fever, vomiting, dehydration and failure to thrive. However, in infancy polyuria may be absent because of dehydration and reduced glomerular filtration rate. In 2 cases the main presenting feature was hypotonia, with marked head lag. family studies confirmed the X-linked mode of inheritance of the disease; in case 1 the disease appeared to have arisen as a new mutation in the mother, and in case 2 the carrier status was traced back to the great-grandmother. Pitfalls in the diagnosis and detection of the carriers are discussed. Treatment with thiazide diuretics and prostaglandin synthesis inhibitors is effective in reducing urine volumes and polydipsia. The early detection of the disease and adequate management may prevent such complications as megacystis, mega-ureter and hydronephrosis, with resulting renal failure. Mental and physical retardation may also be avoided.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
10/16. Clinical variability in congenital fiber type disproportion.Congenital Fiber Type Disproportion (CFTD) has recently been described as a consistent and stereotyped clinicopathological entity, including congenital nonprogressive hypotonia and weakness, contractures, kyphoscoliosis, high arched palate, dislocated hips, short stature, and feet deformities. Our personal experience with this condition suggests a wider disparity in the physical appearance and associated abnormalities of affected individuals than the well-defined clinical syndrome previously described. We are presenting 5 cases, including 2 siblings, whose muscle biopsies satisfy the major histological and statistical criteria for the diagnosis. Although each child clearly had hypotonia and weakness consistent with a congenital myopathy, only 3 had a sufficient number of other similarities to establish the diagnosis clinically. The clinical spectrum of the other cases ranged from one infant whose only abnormality was mild hypotonia in the legs to another whose problems included severe motor impairment, marked mental retardation, growth failure, frontal bossing, abnormal hair, and scoliosis. Even in retrospect, the diagnosis of CFTD could not have been supported on clinical grounds alone. Therefore, CFTD is a congenital myopathy whose diagnosis can be made only by muscle biopsy, rather than a distinct syndrome whose diagnosis can be assumed on the basis of clinical characteristics alone.- - - - - - - - - - ranking = 1keywords = physical (Clic here for more details about this article) |
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