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PubMed2005

Massive myocardial calcification in second-trimester fetuses: antenatal detection and causes.

Massive myocardial calcifications were detected by antenatal ultrasound examination in four second-trimester fetuses. In one fetus, multiple cardiac rhabdomyomas were the initial diagnosis. One fetus presented with arthrogryposis and the brain and spinal cord showed severe hypoxic-ischemic damage. One fetus was hydropic and had severe cardiac malformations. The fourth fetus had congenital heart block and maternal serum was positive for anti-Ro and anti-La antibodies. Myocardial calcifications in the first three fetuses were most likely to be caused by hypoxic-ischemic damage to the heart, and immunological mechanisms were responsible in the other fetus. Antenatally detected myocardial echogenic foci in a fetus leading to a termination of pregnancy or associated with fetal death should be investigated with a full postmortem examination. It is important to confirm the presence of calcifications as distinct from a rhabdomyoma as genetic counseling is completely different. The demonstration of associated lesions in other organs also helps to explain the pathogenesis underlying this condition.

Adult↗
PubMed2000

Characterization of a novel gene, C21orf6, mapping to a critical region of chromosome 21q22.1 involved in the monosomy 21 phenotype and of its murine ortholog, orf5.

Phenotypic and molecular analyses of patients with partial chromosome 21 monosomy enabled us to define a region, spanning 2.4 Mb between D21S190 and D21S226, associated with arthrogryposis, mental retardation, hypertonia, and several facial anomalies. The markers of the region were used to screen a total human PAC library (Ioannou, RZPD). We isolated 57 PACs, which formed primary contigs. EST clusters (UNIGENE collection) located in a 6-Mb interval, between D21S260 and D21S263, were mapped in individual bacterial clones. We mapped the WI-17843 cluster to the PAC clone J12100, which contains the two anchor markers LB10T and LA329. The open reading frame extends over 960 bp, with three putative start codons. The 1695-bp cDNA containing a polyadenylation signal should correspond to the full-length cDNA. From the genomic sequence, we deduced that the gene contained five exons and that there was a putative promoter sequence upstream from exon 1. In silico screening of DNA databases revealed similarity with a murine EST. The corresponding cDNA (1757 bp) sequence was very similar (>85%) to the human cDNA and had an open reading frame of 876 nucleotides. Somatic hybrid mapping localized the cDNA to mouse chromosome 16. EST analyses and RT-PCR indicated that the third exon in the human gene (exon 2 in the mouse) undergoes alternative splicing. Northern blot hybridization showed that the gene was ubiquitously expressed in humans and mice. The longest mouse clone was used to generate riboprobes, which were hybridized to murine embryos at stages E-9.5, E-10.5, E-12.5, E-13.5, and E-14.5-15, to study the pattern of expression during development. Ubiquitous labeling was observed, with strong signals restricted to limited areas of the telencephalon, the mesencephalon, and the interrhombomeric regions in the central nervous system, and other regions of the body such as the limb buds, branchial arches, and somites.

Amino Acid Sequence↗
PubMed2000

Characterization of a 500-kb contig spanning the region between c-Ha-Ras and MUC2 on chromosome 11p15.5.

The 11p15.5 region is associated with a broad range of diseases, including childhood acute myeloid leukemia; non-small cell lung carcinoma; arthrogryposis multiplex congenita, distal type 2B; and bladder cancer. Since targets for these diseases are unknown, we have constructed a physical map consisting of BAC and PAC clones spanning the region from the HRAS1 gene to the cluster of mucin genes on 11p15.5. The contig spans approximately 500 kb and includes 13 genes (9 novel), 9 STSs (5 novel), and 1 SNP and builds upon a published physical map spanning the region from the telomere to the HRAS gene. In addition, we expand the mucin gene cluster located on 11p15.5 to include a novel mucin-like gene (MUCDHL) located less than 250 kb telomeric to MUC6. The identification of potential disease genes within an organizational and evolutionary context provides valuable clues to function and as such will benefit our understanding of this region of the genome.

Chromosomes, Artificial, Bacterial↗
PubMed1994

Familial infantile myasthenia: a neuromuscular cause of respiratory failure.

Acute respiratory failure can be the product of any of a great number of muscular, neuromuscular, and neurologic causes. The family history may be extremely helpful in narrowing the differential diagnosis. We report the case of a girl who, during the course of a slight upper respiratory infection, presented with acute respiratory failure requiring mechanical ventilation. The family history was significant for a brother who had arthrogryposis and died at 15 h of life, also from respiratory failure. The patient herself had a history of palpebral ptosis in the evening. The absence of electromyographic and muscle biopsy abnormalities and the patient's positive response to anticholinesterase therapy supported the diagnosis of familial infantile myasthenia. We emphasize the importance of considering the myasthenic syndromes in the differential diagnosis of acute respiratory failure, since appropriate therapy can rapidly resolve the symptoms. Furthermore, an accurate diagnosis allows appropriate genetic counseling for the hereditary forms.

Child, Preschool↗
PubMed1997

Congenital extension contracture of metacarpophalangeal joints.

We report a case of congenital extension contracture of the fifth metacarpophalangeal joints in a 15-year-old boy who had no associated anomalies and was successfully treated by surgery. Congenital extension contracture of bilateral metacarpophalangeal joints has not been reported previously, and the entity can be considered to be a new subgroup of distal arthrogryposis with congenital distal limb contracture.

Adolescent↗
PubMed1994

Early surgical treatment for congenital vertical talus.

Congenital vertical talus is characterised by a dislocated talonavicular joint in association with an equinus position of the calcaneus. We report the results in 13 operated feet in 10 children, 3 of whom (5 feet) presented with a primary neurological disorder and 2 of whom (3 feet) suffered from arthrogryposis multiplex congenita. The other children were normal. All patients were surgically treated by a one-stage procedure which included reduction of the talonavicular joint and correction of the hindfoot equinus, trying to avoid tendon lengthenings and transfers. The age at operation was between the 3rd and the 6th month of life, with one child being operated on later due to other reasons. The patients were reviewed after an average time of 3.5 +/- 2.2 years. The clinical results were good or excellent in ten feet. Two feet showed partial or complete recurrence and one foot was slightly over-corrected. Radiographic angle measurements (talo-metatarsal I angle and talocalcaneal angle on the anteroposterior radiograph; talocalcaneal, tibiotalar and tibiocalcaneal angles on the lateral radiograph) returned to normal values in the ten good or excellent feet. Early operative treatment for congenital pes vertical talus leads to very satisfactory functional and cosmetic results, usually avoiding extensive procedures including tendon lengthenings and tendon transfers.

Achilles Tendon↗
PubMed1985

Congenital absence of pyramids and its significance in genetic diseases.

Bilateral absence of the pyramids, best assessed in transverse sections of the medulla oblongata, was found in 0.7% of 2,850 autopsies performed at the Royal Children's Hospital, Melbourne (Australia). A strong association with some forms of congenital aqueductal stenosis was observed and evaluated in further cases ascertained through other hospitals. The very strong association observed with X-linked congenital aqueduct stenosis may be useful diagnostically but must be evaluated in other centres. At least, the presence of pyramids seems strong evidence against this diagnosis. Absence of the pyramids was also observed in several known or new genetic syndromes - Meckel's syndrome, the HARD syndrome, two sisters with congenital aqueductal stenosis and polydactyly and two families with microcephaly and arthrogryposis.

Abnormalities, Multiple↗
PubMed1984

Axonal dystrophy in a case of connatal thalamic and brain stem degeneration.

A neonate with a rapidly fatal disease characterized by connatal hypertonia and arthrogryposis multiplex is described. Neuropathological investigations revealed bilateral thalamus and brain stem degeneration, axonal degeneration of pyramidal and other tracts in the spinal cord, and axonal spheroids in areas of origin of lower motor neurons and in the brain stem reticular substance. Congenital thalamic and brain stem degeneration is generally assumed to be the result of intrauterine asphyxia. The widespread occurrence of axonal spheroids in the present neonate points to the possibility of a genetic or toxic origin for at least some of these cases.

Anterior Horn Cells↗
PubMed1997

Successful separation of thoraco-omphalopagus and ischiopagus tetrapus twins in Korea.

A pair of male thoraco-omphalopagus twins with common liver, diaphragm, pericardium, and sternum was separated at the age of 59 days after a parasitic relationship had developed between them. Before separation one baby developed acute renal failure during which he had no edema and had normal serum electrolytes, urea nitrogen, and creatinine due to "autodialysis" by the other baby. The boys have now grown normally to the age of 6 years. A pair of female ischiopagus tetrapus twins who had a common terminal ileum and colon with imperforate anus was separated at the age of 20 h. The smaller baby had congenital multiple arthrogryposis of both lower extremities, a fracture at the middle of the left femur, and a double vagina with hydrocolpos due to an imperforate hymen of the right vagina and a rectovaginal fistula on the left. Posterior sagittal rectoplasties were performed at 7 months of age in both babies. They have normal bowel movements. All four children are alive and developing normally. These are the first two case reports of successfully separated conjoined twins in Korea.

Abnormalities, Multiple↗
PubMed1999

Anesthesia for Freeman-Sheldon syndrome using a laryngeal mask airway.

PURPOSE: To present a case of Freeman-Sheldon syndrome (FSS) with a previously unreported technique of anesthetic management, consisting of a malignant hyperthermia free anesthetic and laryngeal mask airway. CLINICAL FEATURES: Freeman-Sheldon syndrome (also known as whistling face syndrome, Windmill-Vane-Hand syndrome, cranio-carpo-tarsal dysplasia and distal arthrogryposis type 2) is a rare congenital disorder defined by facial and skeletal abnormalities. The three basic abnormalities are microstomia with pouting lips, camptodactyly with ulnar deviation of the fingers and talipes equinovarus. Patients with FSS frequently present for surgical correction of musculoskeletal or facial abnormalities. There are several anesthetic challenges including difficult airway, intravenous cannulation and regional technique. They may be at increased risk for malignant hyperthermia and postoperative pulmonary complications. We present a case of a two-year-old child with FSS undergoing elective unilateral inguinal hernia repair. A non-triggering anesthetic technique was used, consisting of 2 mg x kg(-1) propofol followed by a continuous infusion, nitrous oxide 50%/oxygen, and 3 microg x kg(-1) fentanyl. Intraoperative and postoperative analgesia was provided by an ilioinguinal nerve block with 10 ml bupivacaine 0.25% with epinephrine 1:200,000. The airway was maintained with a #2 laryngeal mask airway. The anesthetic was uneventful and there were no signs or symptoms of malignant hyperthermia. The patient was discharged home later the same day in good health. CONCLUSION: The use of a laryngeal mask airway and non-triggering anesthetic technique should be considered as options for anesthetic management in patients with FSS for short procedures that do not require neuromuscular blockade.

Anesthesia, Inhalation↗
PubMed1998

Bruck syndrome: neonatal presentation and natural course in three patients.

Three unrelated patients with congenital arthrogryposis and brittle bones, the main neonatal signs of Bruck syndrome, are presented. In infancy and early childhood recurrent fractures of ribs and long bones and persistent Wormian bones in the calvarium are reminiscent of osteogenesis imperfecta (OI) even with white sclerae, normal dental quality and normal hearing as important clinical negatives. The diagnosis was made before two years of age in two, and in adolescence in the third patient. The latter's radiologically documented long-term natural course reveals slow progressivity of osteopenia and growth deficiency, worsening tendon contractures and pterygia in addition to increasing spine and pelvis deformation. Mental development remains normal. Bruck syndrome is monogenic and probably due to homozygosity of an as yet unidentified gene. As no alteration in the collagens I and III is detected and molecular screening reveals no mutation in the COL1A1 and COL1A2 genes, the pathogenesis of this severe disorder of connective tissue remains largely unknown.

Abnormalities, Multiple↗
PubMed2001

Metaphyseal fractures mimicking abuse during treatment for clubfoot.

BACKGROUND: Metaphyseal injuries resembling the classic metaphyseal lesion (CML) of abuse may occur as the result of serial casting during treatment of clubfoot deformity. Mentioned in the orthopedic literature in 1972, this iatrogenic fracture has not been described in the radiologic literature nor has the similarity to injuries occurring with abuse been previously recognized. OBJECTIVE: To describe the mechanism and radiographic appearance of metaphyseal injury observed during serial casting of clubfoot. Note similarities to the CML of abuse. MATERIALS AND METHODS: Eight children ranging in age from 1 to 4 months underwent casting for clubfoot. Five orthopedic surgeons from three different institutions performed the casting. Two patients had spina bifida and one, arthrogryposis. A complete skeletal survey was performed on one child who was abused; there was no suspicion of abuse in the remaining seven. RESULTS: All children manifest injury with periosteal new bone. One child had clear evidence of abuse with 24 rib fractures. X-rays of lower extremities in short leg casts revealed bilateral tibial metaphyseal fractures. Four other children had metaphyseal fractures resembling the CML of abuse, and three developed an area of sclerosis within the metaphysis. CONCLUSION: In the setting of serial casting for equinovarus deformity, metaphyseal injury even the CML of abuse may be noted. Since inflicted injuries are almost always unobserved and explanations rarely offered, the fact that the CML occurs as a result of orthopedic maniuplation may offer some further insight concerning the pathogenesis of this well-described abuse injury.

Casts, Surgical↗
PubMed1999

[Restrictive dermopathy].

Restrictive dermopathy is a rare, fatal, autosomal recessive, congenital skin disease. Rigidity of translucent thin skin, which is thus highly vulnerable and tears, spontaneously causes intra-uterine fetal akinesia or hypokinesia deformation sequence (FADS), characteristic dysmorphic facies with fixed open mouth in O position, and generalized joint contractures (arthrogryposis). Polyhydramnios and pulmonary hypoplasia are distinctive manifestations, leading to respiratory insufficiency and premature delivery at about 31 weeks of gestation. We report on a case of a prematurely born infant who presented with the typical morphological features and describe the light- and electron-microscopical findings as described in the literature.

Abnormalities, Multiple↗
PubMed2002

Clinical features and neuroradiological findings of mitochondrial pathology in six neonates.

OBJECTS: We hoped to itemize the clinical and neuroradiological features of six neonates with mitochondrial disorders. METHODS: We examined a case series of six neonates. The diagnosis of mitochondrial cytopathy was made on the basis of spectrophotometric measurements of respiratory chain enzyme activities in skeletal muscle biopsy specimens. Magnetic resonance (MR) imaging was performed in all cases. CONCLUSIONS: The antenatal onset in five cases and the lack of any symptom-free interval are suggestive of fetal expression of the disease. No specific symptoms were found: arthrogryposis congenita multiplex in one, progressive hepatocellular dysfunction in three, encephalomyelopathy and cardiomyopathy in four. Complex I deficiency was found in three patients, while one patients had a defect of complex IV and the last a combined defect of complexes I and IV. Neuroradiological findings were either cerebral atrophy or white matter abnormalities of the brain stem in all cases but one and gave additional information, because clinical symptoms are not quite specific. The combination of clinical and MRI findings in neonatal cases can rule out hypoxic ischemic encephalopathy, which suggests an additional screening method to look for mitochondrial disorder.

Brain↗
PubMed2005

Revision of prolapsed feeding gastrostomy with a modified Janeway 'gastric tube'.

After creation of open or percutaneous endoscopic gastrostomy, gastric prolapse and leak of gastric contents may cause serious skin rash and infection which are often difficult to treat. We present four patients in whom these problems were solved with gastrostomy revision by a modified Janeway 'gastric tube' technique. The patients were aged 7 months and 7, 10 and 16 years at the time of the revision. The underlying conditions were hypoxic encephalopathy with epilepsy, infantile spasm and epilepsy with arthrogryposis, dystonic tetraplegy, and total colon aganglionosis. All patients had gastrostomy prolapse with peristomal skin rash and cellulitis. Prior to modified Janeway revision, the four patients had undergone a total of 16 failed attempts to cure the prolapse. At the operation, the previous gastrostomy was detached and closed. A longitudinal gastric tube of 6 cm was created along the greater curvature with a GIA stapler and brought through the abdominal wall leaving 3-5 cm of free intra-abdominal gastric tube. A balloon catheter was left for 6 weeks, and replaced with a long Mickey tube according to patient's or caretaker's preference. There were no surgical complications. Hospitalisation after revision was median 6 (range 4-11) days. Six weeks after the revision, prolapse, leak and peristomal infections were cured in all patients, and feeding through the gastrostomy presented no problems. One patient underwent minor excision of excess stomal mucosa. Two patients opted for Mickey tube, two for a feeding catheter. A median of 9 (6-16) months after the revision, all patients have a functioning gastrostomy without prolapse or leak. Modified Janeway 'gastric tube' revision is feasible and, within short to medium term follow-up, controls efficiently gastrostomy prolapse and leak.

Adolescent↗
PubMed1996

Fatal congenital myopathy with actin filament deposits.

We present the clinical and morphological findings in a case of progressive congenital myopathy. The symptoms present at birth included severe general muscular hypotonia, diffuse muscular atrophy, arthrogryposis, absence of spontaneous movements, and left ventricular hypertrophy. A biopsy specimen taken from the gastrocnemius muscle when the patient was 2 weeks old revealed deposits which consisted of actin filaments as shown by electron microscopy. The infant was occasionally respirator dependent but was mostly able to breathe unassisted. At the age of 5 months he died of respiratory failure. The actin filament deposits may explain the clinical findings.

Actins↗
PubMed1999

Clinical and neuroimaging study of central nervous system in congenital myotonic dystrophy.

We present the clinical and neuroimaging findings of five patients (four males, one female; mean age 12 years) affected by congenital myotonic dystrophy and the correlation with their molecular genetic analysis. At birth all five presented severe muscular weakness and hypotonia, associated with feeding difficulties and respiratory distress. In the same patients, congenital clubfoot or more generalized arthrogryposis was also evident. Lymphocyte DNA was characterized in each by a CTG repeat longer than 1300 in the region of the myotonic dystrophy gene in chromosome 19. The patients' neurological condition was evaluated by clinical examination, intelligence tests, electroencephalography, and brain magnetic resonance imaging. All five suffered from some impairment of intellectual function (IQ ranged from 52 to 79). In three a longitudinal evaluation of the cognitive deficit detected no deterioration. In all patients magnetic resonance imaging showed some degree of ventricular dilatation, loosely correlated to the cognitive impairment; in three there was hypoplasia of the corpus callosum and in two mild abnormalities of supratentorial white matter. The relationship between the size of the CTG repeat expansion found in lymphocyte DNA and the cerebral abnormalities appeared inconsistent in this unusual myoencephalopathy of the newborn.

Adolescent↗
PubMed1998

A severe case of Moebius syndrome with calcification on the fourth ventricular floor.

We report the case of a Japanese girl with a severe type of Moebius syndrome. Her morphological features were a mask-like face, limitation of horizontal eye movements, severe bulbar palsy, multiple and bilateral arthrogryposis including the elbow, knee, and ankle joints, and clubfeet. After birth, her general condition became worse because of repeated apneic spells and aspiration pneumonias due to dysphagia. She finally required tracheotomy. Computed tomography (CT) of the brain revealed minute calcifications on the fourth ventricle floor; this may have been due to severe damage to the brain stem. It is most likely that the various manifestations in our patient were due to disturbance of the blood supply to arteries perfusing the brain stem and to some other arteries, at a critical stage of fetal development.

Abnormalities, Multiple↗