Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 20 de 35
Filter
Add more filters










Publication year range
2.
Neurology ; 60(4): 665-73, 2003 Feb 25.
Article in English | MEDLINE | ID: mdl-12601110

ABSTRACT

OBJECTIVE: To report pathologic findings in 124 Australian and North American cases of primary nemaline myopathy. METHODS: Results of 164 muscle biopsies from 124 Australian and North American patients with primary nemaline myopathy were reviewed, including biopsies from 19 patients with nemaline myopathy due to alpha-actin (ACTA1) mutations and three with mutations in alpha-tropomyosin(SLOW) (TPM3). For each biopsy rod number per fiber, percentage of fibers with rods, fiber-type distribution of rods, and presence or absence of intranuclear rods were documented. RESULTS: Rods were present in all skeletal muscles and diagnosis was possible at all ages. Most biopsies contained nemaline bodies in more than 50% of fibers, although rods were seen only on electron microscopy in 10 patients. Rod numbers and localization correlated poorly with clinical severity. Frequent findings included internal nuclei and increased fiber size variation, type 1 fiber predominance and atrophy, and altered expression of fiber type specific proteins. Marked sarcomeric disruption, increased glycogen deposition, and intranuclear rods were associated with more severe clinical phenotypes. Serial biopsies showed progressive fiber size variation and increasing numbers of rods with time. Pathologic findings varied widely in families with multiple affected members. CONCLUSIONS: Very numerous nemaline bodies, glycogen accumulation, and marked sarcomeric disruption were common in nemaline myopathy associated with mutations in skeletal alpha-actin. Nemaline myopathy due to mutations in alpha-tropomyosin(SLOW) was characterized by preferential rod formation in, and atrophy of, type 1 fibers. Light microscopic features of nemaline myopathy correlate poorly with disease course. Electron microscopy may correlate better with disease severity and genotype.


Subject(s)
Muscle, Skeletal/pathology , Myopathies, Nemaline/pathology , Actins/genetics , Australia/epidemiology , Biopsy , Cell Nucleus/pathology , Disease Progression , Glycogen/metabolism , Humans , Muscle Fibers, Skeletal/metabolism , Muscle Fibers, Skeletal/pathology , Muscle Fibers, Skeletal/ultrastructure , Muscle, Skeletal/metabolism , Muscle, Skeletal/ultrastructure , Mutation , Myocardium/pathology , Myopathies, Nemaline/epidemiology , Myopathies, Nemaline/physiopathology , North America/epidemiology , Tropomyosin/genetics
3.
Ann Neurol ; 50(3): 312-20, 2001 Sep.
Article in English | MEDLINE | ID: mdl-11558787

ABSTRACT

We report 143 Australian and North American cases of primary nemaline myopathy. As classified by the European Neuromuscular Centre guidelines, 23 patients had severe congenital, 29 intermediate congenital, 66 typical congenital, 19 childhood-onset, and 6 adult-onset nemaline myopathy. Inheritance was autosomal recessive in 29 patients, autosomal dominant in 41, sporadic in 72, and indeterminate in 1. Twenty-two patients had skeletal muscle actin mutations and 4 had mutations in the alpha-tropomyosin(slow) gene. Obstetric complications occurred in 49 cases. Seventy-five patients had significant respiratory disease during the first year of life, and 79 had feeding difficulties. Atypical features in a minority of cases included arthrogryposis, central nervous system involvement, and congenital fractures. Progressive distal weakness developed in a minority of patients. Thirty patients died, the majority during the first 12 months of life. All deaths were due to respiratory insufficiency, which was frequently underrecognized in older patients. Arthrogryposis, neonatal respiratory failure, and failure to achieve early motor milestones were associated with early mortality. Morbidity from respiratory tract infections and feeding difficulties frequently diminished with increasing age. Aggressive early management is warranted in most cases of congenital nemaline myopathy.


Subject(s)
Myopathies, Nemaline/physiopathology , Respiratory Insufficiency/physiopathology , Adult , Child , Humans , Infant , Middle Aged , Mutation/genetics , Myopathies, Nemaline/genetics , Myopathies, Nemaline/mortality , Phenotype , Prognosis , Respiratory Insufficiency/genetics , Respiratory Insufficiency/mortality , Survival Analysis
4.
Neurology ; 53(9): 2127-31, 1999 Dec 10.
Article in English | MEDLINE | ID: mdl-10599793

ABSTRACT

BACKGROUND: Benign acute myositis of childhood is a disorder of midchildhood, typically affecting boys. Symptoms include calf pain and difficulty walking after a viral illness. There is an epidemiologic association with influenza. OBJECTIVES: To describe the clinical and laboratory features of benign acute myositis. RESULTS: Thirty-eight children (32 boys, 6 girls) were seen with 41 episodes of myositis between 1978 and 1997. Two were siblings and three had recurrent episodes. Mean age at onset of symptoms was 8.1 years. Children remained ambulant during 33 of 41 episodes. Two characteristic gaits were noted: toe-walking in 13, with a wide-based stiff-legged gait in another 7. Muscle tenderness was isolated to the gastrocnemius-soleus muscles in 82% of episodes. Recovery occurred within 1 week. Creatine kinase levels were elevated during all episodes. Viral studies were positive in 10 of 24 episodes, 5 because of influenza B. CONCLUSION: Benign acute myositis is a syndrome of midchildhood that can be differentiated from more serious causes of walking difficulty by the presence of calf tenderness, normal power, intact tendon reflexes, and elevated creatine kinase. The gait patterns noted may minimize power generation of the calf muscles by splinting the ankles. Onset in childhood may reflect an age-related response to viral infection, and occurrence primarily in boys may reflect a genetic predisposition or an as-yet unknown metabolic defect.


Subject(s)
Myositis/diagnosis , Acute Disease , Biopsy , Child , Creatine Kinase/blood , Female , Guillain-Barre Syndrome/diagnosis , Guillain-Barre Syndrome/etiology , Guillain-Barre Syndrome/pathology , Humans , Influenza, Human/complications , Influenza, Human/diagnosis , Influenza, Human/pathology , Male , Muscle, Skeletal/pathology , Myositis/etiology , Myositis/pathology
5.
J Pediatr ; 135(2 Pt 1): 197-202, 1999 Aug.
Article in English | MEDLINE | ID: mdl-10431114

ABSTRACT

OBJECTIVE: Several mutations in mitochondrial DNA have been associated with infantile cardiomyopathy, including a C3303T mutation in the mitochondrial transfer RNA(Leu(UUR)) gene. Although this mutation satisfied generally accepted criteria for pathogenicity, its causative role remained to be confirmed in more families. Our objective was to establish the frequency of the C3303T mutation and to define its clinical presentation. STUDY DESIGN: Families with cardiomyopathy and maternal inheritance were studied by polymerase chain reaction/restriction fragment length polymorphism analysis looking for the C3303T mutation. RESULTS: We found the C3303T mutation in 8 patients from 4 unrelated families. In one, the clinical presentation was infantile cardiomyopathy; in the second family, proximal limb and neck weakness dominated the clinical picture for the first 10 years of life, when cardiac dysfunction became apparent; in the third family, 2 individuals presented with isolated skeletal myopathy and 2 others with skeletal myopathy and cardiomyopathy; in the fourth family, one patient had fatal infantile cardiomyopathy and the other had a combination of skeletal myopathy and cardiomyopathy. CONCLUSIONS: Our findings confirm the pathogenicity of the C3303T mutation and suggest that this mutation may not be rare. The C3303T mutation should be considered in the differential diagnosis of skeletal myopathies and cardiomyopathy, especially when onset is in infancy.


Subject(s)
Cardiomyopathies/genetics , Mitochondrial Myopathies/genetics , Point Mutation , Adolescent , Adult , Age of Onset , Aged , Cardiomyopathies/diagnosis , Cardiomyopathies/pathology , Child , DNA, Mitochondrial/analysis , Female , Humans , Infant , Male , Middle Aged , Mitochondrial Myopathies/diagnosis , Pedigree , Polymorphism, Restriction Fragment Length
6.
J Biol Chem ; 274(31): 21817-22, 1999 Jul 30.
Article in English | MEDLINE | ID: mdl-10419498

ABSTRACT

Mutations in the genes that code for collagen VI subunits, COL6A1, COL6A2, and COL6A3, are the cause of the autosomal dominant disorder, Bethlem myopathy. Although three different collagen VI structural mutations have previously been reported, the effect of these mutations on collagen VI assembly, structure, and function is currently unknown. We have characterized a new Bethlem myopathy mutation that results in skipping of COL6A1 exon 14 during pre-mRNA splicing and the deletion of 18 amino acids from the triple helical domain of the alpha1(VI) chain. Sequencing of genomic DNA identified a G to A transition in the +1 position of the splice donor site of intron 14 in one allele. The mutant alpha1(VI) chains associated intracellularly with alpha2(VI) and alpha3(VI) to form disulfide-bonded monomers, but further assembly into dimers and tetramers was prevented, and molecules containing the mutant chain were not secreted. This triple helical deletion thus resulted in production of half the normal amount of collagen VI. To further explore the biosynthetic consequences of collagen VI triple helical deletions, an alpha3(VI) cDNA expression construct containing a 202-amino acid deletion within the triple helix was produced and stably expressed in SaOS-2 cells. The transfected mutant alpha3(VI) chains associated with endogenous alpha1(VI) and alpha2(VI) to form collagen VI monomers, but dimers and tetramers did not form and the mutant-containing molecules were not secreted. Thus, deletions within the triple helical region of both the alpha1(VI) and alpha3(VI) chains can prevent intracellular dimer and tetramer assembly and secretion. These results provide the first evidence of the biosynthetic consequences of structural collagen VI mutations and suggest that functional protein haploinsufficiency may be a common pathogenic mechanism in Bethlem myopathy.


Subject(s)
Collagen/genetics , Muscular Dystrophies/genetics , Neuromuscular Diseases/genetics , Sequence Deletion , Skin/metabolism , Adult , Amino Acid Sequence , Base Sequence , Cells, Cultured , Collagen/biosynthesis , Collagen/chemistry , Exons , Fibroblasts/metabolism , Humans , Introns , Male , Osteosarcoma , Protein Engineering , Protein Structure, Secondary , RNA Precursors/genetics , Restriction Mapping , Transfection , Tumor Cells, Cultured
7.
Acta Paediatr ; 87(4): 381-6, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9628291

ABSTRACT

Benign intracranial hypertension (BIH) is reported in three children from Australia and one from New Zealand, who were being treated with recombinant human growth hormone (rhGH). Three males and one female, aged between 10.5 and 14.2 y, developed intracranial hypertension within 2 weeks to 3 months of starting treatment. A national database, OZGROW, has been prospectively collecting data on all 3332 children treated with rhGH in Australia and New Zealand from January 1986 to 1996. The incidence of BIH in children treated with growth hormone (GH) is small, 1.2 per 1000 cases overall, but appears to be greater with biochemical GHD (<10 IU ml(-1)), i.e. 6.5/1000 (3 in 465 cases), relative risk 18.4, 95% confidence interval 1.9-176.1, than in all other children on the database. The incidence in patients with Turner's syndrome was 2.3/1000 (1 in 428 cases). No cases in patients with partial GHD (10-20 IU ml(-1)) or chronic renal failure were identified. Possible causative mechanisms are discussed. The authors' practice is now to start GH replacement at less than the usual recommended dose of 14 IU m(-2) week(-1) in those children considered to be at high risk of developing BIH. Ophthalmological evaluation is recommended for children before and during the first few months following commencement of rhGH therapy and is mandatory in the event of peripheral or facial oedema, persistent headaches, vomiting or visual symptoms. The absence of papilloedema does not exclude the diagnosis.


Subject(s)
Human Growth Hormone/adverse effects , Intracranial Hypertension/chemically induced , Adolescent , Adverse Drug Reaction Reporting Systems , Australia/epidemiology , Child , Female , Humans , Intracranial Hypertension/epidemiology , Male , New Zealand/epidemiology
8.
Ann Neurol ; 43(4): 514-20, 1998 Apr.
Article in English | MEDLINE | ID: mdl-9546334

ABSTRACT

Paroxysmal tonic upgaze (PTU) of childhood is a distinctive neuro-ophthalmological syndrome of unknown etiology and pathogenesis that is characterized by episodes of sustained upward deviation of the eyes, often with incomplete downward saccades on attempted downgaze. It is generally regarded as having a benign outcome. We observed 16 children with PTU, from 10 months to 11 years from onset (mean, 5.4 years), to study the natural history and possible etiology. Five cases were from two unrelated families. Onset of PTU occurred either during or after an intercurrent infection or vaccination in 5 children. No antecedent was identifiable in the rest. PTU had completely resolved in 10 children (62%) (mean age at offset, 2.5 years), whereas 2 children intermittently manifest a modified form of the disorder. At follow-up, 11 children (69%) had developmental delay, intellectual disability, or language delay and 9 (56%) had ocular motility problems other than PTU. Only 3 children (19%) had normal development and neurological findings. PTU is a heterogeneous syndrome with respect to associations and outcome and may simply be an age-dependent manifestation of a variety of disorders affecting corticomesencephalic control of vertical eye movement. This disorder may be an early sign of more widespread neurological dysfunction.


Subject(s)
Fixation, Ocular/physiology , Ocular Motility Disorders/physiopathology , Adolescent , Age of Onset , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Infant , Intellectual Disability/complications , Intellectual Disability/physiopathology , Male , Ocular Motility Disorders/etiology , Ocular Motility Disorders/genetics , Pedigree , Syndrome , Time Factors
9.
J Pediatr Orthop B ; 6(3): 215-8, 1997 Jul.
Article in English | MEDLINE | ID: mdl-9260653

ABSTRACT

The cause of toe-walking is unknown. Muscle biopsies were taken from a group of 25 toe-walkers who were treated at this hospital to try to identify the pathological cause of the condition. The most common abnormality noted was an increase in the proportion of type I muscle fibers with type grouping; other less common changes included the presence of angulated atrophic fibers and thickened capillaries and cases in which occasional fibers were undergoing active degeneration and regeneration. The combination of these changes suggests that there may be an underlying neuropathic process in idiopathic toe-walkers.


Subject(s)
Gait , Muscle, Skeletal/abnormalities , Muscle, Skeletal/pathology , Toes , Walking , Biopsy, Needle , Child , Child, Preschool , Female , Follow-Up Studies , Humans , Male
10.
Neurology ; 47(1): 98-102, 1996 Jul.
Article in English | MEDLINE | ID: mdl-8710133

ABSTRACT

Chronic inflammatory demyelinating neuropathy (CIDP) is a rare disease in childhood. We reviewed the clinical characteristics, response to therapy, and long-term prognosis in 13 children (1.5 to 16 years of age) diagnosed with CIDP at Washington University Medical Center, St. Louis, and the Royal Children's Hospital, Melbourne, Australia, between 1979 and 1994. The most common presenting symptom (in 11/13 [85%]) was lower extremity weakness associated with difficulty in walking. Preceding events within 1 months of onset, mostly intercurrent infections or vaccinations, occurred in seven children (54%). The disease was monophasic in three children (23%). One relapse occurred in four (30%) and multiple relapses in six (46%). All patients had at least short-term response to steroids. Three children (23%) recovered completely during the first year. Ten children (77%) had residual weakness after an average follow-up of 6 years. There seems to be two populations of children with CIDP. One subgroup, with a favorable prognosis, progressed to peak disability over less than 3 months; these children often have a monophasic course with complete resolution of symptoms and signs and withdrawal from all medications by 1 year after onset. A second subgroup progressed for 3 months or longer; these children all required substantial does of prednisone for prolonged periods and had considerable long-term morbidity with persistent weakness.


Subject(s)
Demyelinating Diseases/physiopathology , Adolescent , Child , Child, Preschool , Chronic Disease , Female , Follow-Up Studies , Humans , Infant , Inflammation , Male , Reaction Time/physiology , Time Factors
11.
Pediatr Radiol ; 25 Suppl 1: S212-7, 1995 Nov.
Article in English | MEDLINE | ID: mdl-8577533

ABSTRACT

The CT imaging and clinical presentation in 14 children with coexistent intracranial sepsis and sinusitis were reviewed. A routine CT head scan (10-mm thick semi-axial slices through the cranium done before and after intravenous contrast medium administration) was found to be an inadequate initial investigation as the intracranial collection was missed in four patients and the abnormal sinuses not shown in six. In half the children the diagnosis of sinusitis was unsuspected at the time of admission. The dominant clinical features were fever, intense headache and facial swelling in early adolescent males. In this clinical setting we recommend: (1) the routine scan is extended through the frontal and ethmoidal sinuses and photographed at a window level and width showing both bone detail and air/soft tissue interfaces; (2) direct coronal projections are performed through the anterior cranial fossa if no collection is seen on the routine study; (3) an early repeat scan within 48 h if the initial study shows no intracranial pathology but the fronto-ethmoidal sinuses are abnormal and there is a high clinical suspicion of intracranial sepsis; and (4) in the presence of intracranial sepsis the vault is viewed at bone window settings to exclude cranial osteomyelitis.


Subject(s)
Brain Abscess/diagnostic imaging , Sinusitis/diagnostic imaging , Adolescent , Brain Abscess/diagnosis , Brain Abscess/etiology , Child , Diagnosis, Differential , Female , Humans , Male , Osteomyelitis/diagnosis , Osteomyelitis/diagnostic imaging , Osteomyelitis/etiology , Retrospective Studies , Sinusitis/complications , Sinusitis/diagnosis , Skull/diagnostic imaging , Tomography, X-Ray Computed
13.
Neurology ; 43(10): 1966-80, 1993 Oct.
Article in English | MEDLINE | ID: mdl-8413954

ABSTRACT

We evaluated ictal 99mtechnetium hexamethyl propylene-amine-oxime single-photon emission computed tomography (SPECT) in 22 children with electroclinical features of frontal lobe epilepsy (FLE). Ictal SPECT demonstrated unilateral frontal hyperperfusion in 20 of 22 children (91%) (one lobar, two frontocentral, six dorsolateral, six frontopolar, three orbitofrontal, one medial frontal, and one insula), concordant with electroclinical lateralization in 19 of 20 (95%). Hyperperfusion was evident in the ipsilateral basal ganglia in 16 of 22 (73%) and the contralateral cerebellum in 14 of 22 children (64%). Interictal SPECT showed unilateral, localized frontal hypoperfusion concordant with electroclinical lateralization in only two of 22 children (9%). Ictal SPECT localization to the frontocentral, media frontal, or dorsolateral regions was associated with asymmetric tonic posturing, contralateral head/eye deviation, and unilateral clonic jerking (p < 0.01). Ictal SPECT localization to the frontopolar or orbitofrontal regions was associated with vocalization, hyperventilation, truncal flexion, and complex gestural automatisms (p > or = 0.05). Ictal SPECT has the potential to (1) localize seizures in patients with intractable FLE, and (2) advance understanding of the in vivo anatomico-clinical relationships of frontal lobe seizures.


Subject(s)
Brain/diagnostic imaging , Epilepsy, Frontal Lobe/diagnostic imaging , Epilepsy, Frontal Lobe/physiopathology , Organotechnetium Compounds , Oximes , Adolescent , Adult , Age of Onset , Brain/physiopathology , Child , Child, Preschool , Electroencephalography , Humans , Infant , Technetium Tc 99m Exametazime , Tomography, Emission-Computed, Single-Photon/methods
14.
Epilepsia ; 34(5): 869-77, 1993.
Article in English | MEDLINE | ID: mdl-8404739

ABSTRACT

Seventeen ictal 99mTc-HMPAO single photon emission computed tomography (SPECT) studies were performed in 15 children with temporal lobe epilepsy (TLE) aged 7-14 years (mean 10.3 years). Ictal SPECT was informative in 16 of 17 (94%) studies in 14 of 15 (93%) children, showing unilateral temporal lobe hyperperfusion. In all 16 informative ictal SPECT studies, lateralization was concordant with ictal EEG, magnetic resonance imaging (MRI), and pathology. In 4 children, ictal SPECT provided additional localizing information that was not apparent from concurrent ictal EEG recording. Blinded interpretation of ictal SPECT studies by two independent investigators showed correct lateralization of the epileptic focus in every child. Results of visual analysis of ictal SPECT images were corroborated by quantitative analysis. Although interictal SPECT studies showed a degree of temporal lobe hypoperfusion in all children, in 9 of 15 hypoperfusion was either minimal, bilateral, contralateral, or associated with extratemporal hypoperfusion. In children with TLE, ictal SPECT provides reliable lateralizing information to corroborate or supplement that obtained from surface EEG and MRI.


Subject(s)
Epilepsy, Temporal Lobe/diagnostic imaging , Organotechnetium Compounds , Oximes , Tomography, Emission-Computed, Single-Photon , Adolescent , Age Factors , Cerebrovascular Circulation , Child , Child, Preschool , Epilepsy, Temporal Lobe/diagnosis , Epilepsy, Temporal Lobe/physiopathology , Female , Functional Laterality/physiology , Humans , Infant , Male , Neurologic Examination , Technetium Tc 99m Exametazime , Temporal Lobe/blood supply , Temporal Lobe/diagnostic imaging , Temporal Lobe/physiopathology
15.
J Child Neurol ; 6(2): 146-9, 1991 Apr.
Article in English | MEDLINE | ID: mdl-2045631

ABSTRACT

Subacute sclerosing panencephalitis is reported in a 16-year-old girl with a 2 1/2-year history of right-sided simple partial sensory and motor seizures. The seizures were verified with video-electroencephalographic monitoring, showing left frontal epileptic activity. After an initial response to antiepileptic medication, her seizures became intractable, and mild, right-hemisphere signs developed. Magnetic resonance imaging showed an extensive right-hemisphere infiltrative lesion, thought to be a neoplasm. Cortical brain biopsy raised the possibility of subacute sclerosing panencephalitis, and this was confirmed serologically. The case highlights the importance of considering subacute sclerosing panencephalitis in the differential diagnosis of intractable seizures and demonstrates that strikingly asymmetrical magnetic resonance imaging abnormalities are not inconsistent with this diagnosis.


Subject(s)
Seizures/etiology , Subacute Sclerosing Panencephalitis/diagnosis , Adolescent , Brain/pathology , Diagnosis, Differential , Female , Humans , Magnetic Resonance Imaging , Subacute Sclerosing Panencephalitis/complications
16.
J Child Neurol ; 6(1): 20-3, 1991 Jan.
Article in English | MEDLINE | ID: mdl-2002196

ABSTRACT

A father and son with presumed dominantly inherited, nonprogressive, early-onset cerebellar ataxia are reported. The clinical features are similar to those in other reports of this rare disorder, but magnetic resonance imaging revealed generalized atrophy of the cerebellum and not localized vermal atrophy as previously noted. This family illustrates either an extended phenotype of the previously reported disorder or possibly an unique type of autosomal dominant cerebellar ataxia.


Subject(s)
Phenotype , Spinocerebellar Degenerations/genetics , Adolescent , Cerebellum/pathology , Humans , Magnetic Resonance Imaging , Male , Middle Aged , Neurologic Examination , Pedigree , Spinocerebellar Degenerations/diagnosis
17.
Anaesth Intensive Care ; 18(4): 466-72, 1990 Nov.
Article in English | MEDLINE | ID: mdl-2268010

ABSTRACT

Myasthenia gravis, a rare disease in children, occurs in a variety of forms. The aetiology and clinical presentations are reviewed. Eight patients who were studied with electromyography are presented. The results show that, in general, patients with the usual pattern of disease are resistant to suxamethonium (ED95 3-4 times normal) and are sensitive to nondepolarizing relaxants. When the latter are used it is advisable to administer small increments with neuromuscular monitoring. One patient with the disease localised to the eyelid had normal EMG responses when monitored on the hand with ulnar nerve stimulation.


Subject(s)
Anesthesia, General , Myasthenia Gravis/physiopathology , Neuromuscular Blocking Agents/pharmacology , Adolescent , Child , Child, Preschool , Humans , Infant , Infant, Newborn , Neuromuscular Junction/drug effects , Neuromuscular Junction/physiology
18.
Arch Dis Child ; 65(8): 851-5, 1990 Aug.
Article in English | MEDLINE | ID: mdl-2169226

ABSTRACT

The clinical and radiological features of 38 children with osteoid osteomas were analysed retrospectively. Twenty nine patients had lesions of the femur (n = 17) or tibia (n = 12). The mean duration from the onset of symptoms to diagnosis was 13.8 months. In seven patients the history of pain and abnormalities on examination suggested a possible neurological disorder. Fourteen of 29 patients (48%) with femoral or tibial osteomas had localised muscle atrophy, and 10 patients (34%) had diminished or absent deep tendon reflexes in the affected limb. Two patients had painless lesions. Six patients had normal plain radiographs. Delay in the diagnosis of osteoid osteoma may be prevented by the knowledge that pain may be referred or radicular, that the concomitant occurrence of muscle atrophy and depressed deep tendon reflexes are relatively common findings, and that the characteristic radiological features may only appear late in the course of the disease.


Subject(s)
Bone Neoplasms/diagnosis , Osteoma, Osteoid/diagnosis , Peripheral Nervous System Diseases/etiology , Adolescent , Bone Neoplasms/pathology , Child , Child, Preschool , Female , Humans , Male , Muscles/pathology , Muscular Atrophy/etiology , Osteoma, Osteoid/pathology , Osteoma, Osteoid/physiopathology , Pain/etiology , Peripheral Nervous System Diseases/diagnosis , Reflex, Abnormal/physiology , Reflex, Stretch/physiology , Retrospective Studies
19.
J Child Neurol ; 5(2): 137-41, 1990 Apr.
Article in English | MEDLINE | ID: mdl-2345280

ABSTRACT

Three patients with Leigh's syndrome developed respiratory failure following general anesthesia. Although all three had respiratory symptoms prior to the anesthetic, the diagnosis was not suspected at the time of the procedure in two of the children. We reviewed the case notes of 16 other patients with Leigh's syndrome. Eight had received anesthetic agents without incident. Although the majority subsequently developed respiratory abnormalities and died with respiratory failure, this problem was not evident at the time of anesthesia. In the presence of respiratory abnormalities, general anesthesia carries significant risks in Leigh's syndrome.


Subject(s)
Anesthesia, General/adverse effects , Brain Diseases, Metabolic/complications , Leigh Disease/complications , Respiratory Insufficiency/chemically induced , Brain/pathology , Child, Preschool , Female , Humans , Infant , Leigh Disease/genetics , Leigh Disease/pathology , Male , Respiratory Insufficiency/pathology , Risk Factors , Spinal Cord/pathology
20.
J Child Neurol ; 4(2): 131-6, 1989 Apr.
Article in English | MEDLINE | ID: mdl-2715610

ABSTRACT

Two children are described who suddenly developed an encephalitic illness with intractable bilateral facial seizures. The seizures subsided over several days, but the children were left with the signs of pseudobulbar palsy and are unable to speak or swallow effectively. Bilateral destructive lesions in the opercular regions evolved on computed tomographic scans. Both children were treated with acyclovir relatively early in the illness, and cerebrospinal fluid and serum antibodies support the diagnosis of herpes simplex virus encephalitis.


Subject(s)
Brain Damage, Chronic/complications , Encephalitis/complications , Herpes Simplex/complications , Paralysis/etiology , Brain Damage, Chronic/diagnosis , Child , Child, Preschool , Encephalitis/diagnosis , Female , Follow-Up Studies , Herpes Simplex/diagnosis , Humans , Male , Syndrome , Tomography, X-Ray Computed
SELECTION OF CITATIONS
SEARCH DETAIL
...