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H Plauchu

Publications and source records attributed to H Plauchu.

At least 19 recordsLinked to original sources
PubMed2006

[Marfan's syndrome and pregnancy].

The Marfan's syndrome is an autosomal dominant genetic disorder resulting in a diminished strength of connective tissue. The ocular, skeletal and cardiovascular systems are mostly at risk. Principal complications of the disease are aortic dilatation and the risk of acute dissection. Pregnancy increases this risk. Based on the experience of our obstetrics department and after reviewing medical literature, we have tried to establish guidelines for obstetric care adapted to pregnant patients affected by Marfan's syndrome. Women with aortic root > 40 mm should avoid pregnancy. In all cases B-adrenergic receptor blockers must be used as soon as possible. Because there is a 50% risk that offspring will inherit the syndrome, prenatal diagnosis should be suggested. In addition to usual pregnancy monitoring, echocardiography should be performed every 3 months as well as 2 months after delivery. No increase of obstetrical complications has been shown in these patients. Route of delivery also depends on the diameter of the aortic root: vaginal delivery is warranted if the aortic root is<40; cesarean section should be performed in the other cases. Thus, with appropriate supervision, women with Marfan's syndrome will tolerate pregnancy without any adverse effect.

Adrenergic beta-Antagonists↗
PubMed2005

[Treatments of hereditary hemorrhagic telangiectasia of the nasal mucosa].

UNLABELLED: Hereditary Hemorrhagic Telangiectasia is a systemic autosomal dominant disorder involving blood vessels. The most common symptom is recurrent epistaxis. The treatments of these epistaxis are numerous but such treatments are often symptomatic and their effects are often not sustained. Some of these treatments may be complicated by visceral vascular malformations. The aim of this study is to propose a treatment plan for these patients with hierarchical organisation of therapeutic options taking into account of their previous therapy. METHOD: H. Plauchu organized in Paris, december 2002 a meeting with any medical specialists of this disease. They have analysed variety of therapies that have been proposed for epistaxis control in Hereditary Haemorrhagic Télangiectasia. RESULTS: Most common use packing of nasal fossa and then hyperselective embolization of the internal maxillary and facial arteries for severe epistaxis. For chronic epistaxis, best treatment use sclerotics products (Ethibloc) and laser. After discussion, primary embolization could be useful to reduce vascularization of nasal fossa. CONCLUSION: Treatment of epistaxis in Hereditary Haemorrhagic Telangiectasia could increase in few years. Use of an index card of for epistaxis in the disease of Rendu-Osler could help to find treatment of choice.

Acute Disease↗
PubMed2004

Doppler ultrasonographic grading of hepatic vascular malformations in hereditary hemorrhagic telangiectasia -- results of extensive screening.

AIMS: In previous studies, the prevalence of hepatic vascular malformations (VMs) in a large Italian family with hereditary hemorrhagic telangiectasia (HHT) was examined by Doppler ultrasonography (US) as screening technique, and the relevant Doppler US findings were described and classified. Thereafter, Doppler US has been routinely used to screen HHT families for liver involvement. Hepatic VMs were evaluated and classified on the basis of Doppler US findings. METHODS: Three hundred and forty-six subjects belonging to 64 pedigrees were checked for the presence of signs of HHT. All of them underwent abdominal Doppler US screening for hepatic VMs. Vascular abnormalities were classified as minimal if the hepatic artery was dilated in extrahepatic tract only and measured > 6 mm; as moderate if the hepatic artery was dilated in both intra and extrahepatic tract; and as severe if complex changes of the arterial hepatic branches were associated with hepatic and/or portal vein dilatation. Furthermore, Doppler parameters, both qualitative (flow direction, turbulence) and quantitative (peak flow velocity and resistivity index in hepatic artery, mean velocity in portal vein, diastolic peak flow velocity in hepatic veins), were entered into our VM classification. RESULTS: HHT was found in 222 subjects, with hepatic VMs detected by Doppler US in 92 (41.4 %) (24 males, 68 females, mean age 52.2). Hepatic VMs were minimal in 11 subjects, moderate in 70, and severe in 11. CONCLUSIONS: On the basis of our proposed grading, hepatic VMs can be easily classified in subjects with HHT by Doppler US. Depending on the degree of hepatic vascular derangement, appropriate programs for follow up and/or therapy can be designed.

Adolescent↗
PubMed2003

Infantile ascending hereditary spastic paralysis (IAHSP): clinical features in 11 families.

OBJECTIVE: To report clinical, neuroradiologic, neurophysiologic, and genetic findings on 16 patients from 11 unrelated families with a remarkable uniform phenotype characterized by infantile ascending hereditary spastic paralysis (IAHSP). METHODS: Sixteen patients from 11 families, originating from North Africa and Europe, who presented severe spastic paralysis and ascending progression were studied. RESULTS: Spastic paraplegia started in the first 2 years of life in most patients and extended to the upper limbs by the end of the first decade. The disease progressed to tetraplegia, anarthria, dysphagia, and slow eye movements in the second decade. The clinical course showed a long survival and preservation of intellectual skills. Clinical, neuroradiologic, and neurophysiologic findings were consistent with a relatively selective early involvement of the corticospinal and corticobulbar pathways. No signs of lower motor neuron involvement were observed, whereas motor evoked potentials demonstrated predominant involvement of the upper motor neurons. MRI was normal in young patients but showed brain cortical atrophy in the oldest, predominant in the motor areas, and T2-weighted bilateral hyperintense signals in the posterior arm of the internal capsule. The ALS2 gene, recently found mutated in consanguineous Arabic families with either an ALS2 phenotype or a juvenile-onset primary lateral sclerosis, was analyzed. Alsin mutations were found in only 4 of the 10 families, whereas haplotype analysis excluded the ALS2 locus in one family. CONCLUSIONS: The syndrome of IAHSP is genetically heterogeneous, and no clinical sign can help to distinguish patients with and without Alsin mutations.

Adolescent↗
PubMed2003

Visceral manifestations in hereditary haemorrhagic telangiectasia type 2.

Hereditary haemorrhagic telangiectasia (HHT) is a genetic vascular disorder characterised by epistaxis, telangiectases, and visceral manifestations. The two known disease types, HHT1 and HHT2, are caused by mutations in the endoglin (ENG) and ALK-1 genes, respectively. A higher frequency of pulmonary arteriovenous malformations (AVMs) has been reported for HHT1 while HHT2 is thought to be associated with a lower penetrance and milder disease manifestations. In this study, we present 10 families with an ALK-1 genotype. Visceral manifestations were detected in 24 (26%) of the 93 HHT2 patients from nine of the families and included gastrointestinal bleeding (14%), intrahepatic shunts (6%), and AVMs in the lung (4%) and brain (3%). Gastrointestinal bleeding, the most frequent visceral manifestation, was reported in six of the 10 families, mostly in patients over the age of 50. These patients also had frequent epistaxis and suffered from anaemia, often requiring blood transfusions. The identification of ALK-1 mutations in subjects with a suspected diagnosis and without clinical signs of HHT argue in favour of a molecular diagnosis. We also analysed the data published on 44 families with HHT2 and conclude that visceral manifestations occur in 26 of these families and affect 30% of HHT2 patients. This is considered an underestimate given incomplete and variable screening for lung, brain, and/or liver involvement in different clinical centres. These findings, however, stress the need for an early diagnosis of HHT that can be useful for the early control of associated visceral involvement.

Activin Receptors, Type I↗
PubMed2003

[Establishing a new severity score for EEC: ectrodactyly-ectodermal dysplasia-cleft lip and palate].

BACKGROUND: EEC (ectodactyly-ectodermal dysplasia-cleft lip and palate) is a rare disease transmitted by autosomal dominant inheritance with variable penetrance and weak expressivity. Clinical expression is thus very variable. Besides the three signs defining the syndrome, other manifestations include anomalous lacrimal ducts, urogenital malformations, transmission deafness, facial dysmorphism, and mental retardation. In 1995, Roelfsema and Cobben established a severity score on the basis of data in the literature. MATERIAL AND METHODS: We analyzed retrospectively the cases of 5 patients followed from 1980 to 2000 in two University Hospitals in France. Malformations were detailed and the Roelfsema and Cobben score was calculated. The real degree of disability was estimated from social activity level. We searched for a correlation between the Roelfsema and Cobben score and the real degree of disability. RESULTS: Our findings showed a poor correlation between disability and the Roelfsema and Cobben score. We proposed a new score which takes into account social disability. DISCUSSION: Our study revealed that the Roelfsema and Cobben score overly emphasizes anatomic malformations without taking into account natural adaptation to the social environment. Inversely, the Roelfsema and Cobben score gives little importance to invisible anomalies despite their invalidating effect.

Abnormalities, Multiple↗
PubMed2002

Clinical and genetic heterogeneity of Seckel syndrome.

Seckel syndrome is a rare autosomal recessive condition belonging to the group of osteodysplastic primordial "dwarfism" and characterized by the association of 1) severe pre- and postnatal growth retardation, 2) microcephaly with mental retardation, and 3) specific dysmorphic features. Recently, two disease loci have been mapped to chromosomes 3q22.1-q24 and 18p11.31-q11.2, respectively, by homozygosity mapping in consanguineous families. Here, we report on the exclusion of these loci in five consanguineous and one multiplex nonconsanguineous Seckel syndrome families and in two consanguineous families presenting type II osteodysplastic primordial dwarfism. These results support the view that Seckel syndrome is a clinically and genetically heterogeneous condition.

Abnormalities, Multiple↗
PubMed2001

Lissencephaly type III, stippled epiphyses and loose, thick skin: a new recessively inherited syndrome.

We report on two new cases of syndromic lissencephaly in two consanguineous sibs, with skeletal abnormality, born to young, healthy, second cousin parents with healthy children. In Case 1, fetal ultrasound screening at 32 weeks of gestation showed microcephaly, skin infiltration and equinovarus feet. MRI disclosed cerebral agyria, hypoplastic cerebral mantle and posterior agenesis of the corpus callosum. The propositus, a boy, died soon after birth at term. In Case 2, fetal ultrasound study performed at 16 weeks of gestation disclosed skin infiltration. MRI at 22 weeks of gestation showed microcephaly with agenesis of corpus callosum and cerebellar hypoplasia. Pregnancy was terminated at 22 weeks of gestation. The fetus had normal 46, XY karyotype and similar anomalies found in the index case, with cranio-facial edema and arthrogryposis. X-ray films showed epiphyseal stippling of cervical vertebrae, feet and sacrum. Metacarpal bones were shortened with hypoplastic distal phalanges. Neuropathological findings were concordant with the pattern described in type III lissencephaly: an agyric brain with hypoplastic brain stem and cerebellum, severe neuronal loss of the cortical plate, matrix zone, basal ganglia, brainstem nuclei and spinal cord with axonal swelling and microcalcification. This entity seems to be a new syndromic lissencephaly type III, because of epiphyseal calcifications and metacarpophalangeal bone dysplasia.

Abnormalities, Multiple↗
PubMed2001

[Genetic deafness:the primary cause of sensorineural hearing loss in children].

Genetically-transferred hearing impairments account for more than 50% of cases of pediatric sensorineural hearing defects. Multiple clinical aspects are involved in genetic hearing impairment, including the involvement of other organs, genetic inheritance, and the degree and age at onset of hearing loss. Diagnosis relies on family history, on the systematic investigation of the symptomatology including an associated syndrome, and audiometry testing in parents and siblings. Analysis of the connexin 26 gene is also indicated, as it is frequently involved in this disorder. Further genetic analysis in affected families will aid in detecting other as yet unidentified genes responsible for hearing impairment.

Age of Onset↗
PubMed2001

[Diagnostic trap and difficulties of genetic counseling in a family with neuromuscular disease carriers].

BACKGROUND: Recent advances in the field of molecular genetics have provided useful tools for the diagnosis of neuromuscular disorders. Genetic counselling for many of these conditions may, however, be fraught with difficulties. CASE REPORT: The patient, two paternal uncles and a paternal aunt presented with clinical and electromyographic evidence of type III spinal muscular atrophy despite an autosomal dominant-like pedigree. The diagnosis was confirmed by genetic testing for the SMN deletion. As the proband's mother was pregnant at the time of presentation of the affected child, a prenatal diagnostic test was performed. The deletion was not found in the DNA extracted from the trophoblast and the pregnancy proceeded to full term, and a normal child. At the same time, a first cousin of the proband was found to have a clinically similar condition. He had not the SMN deletion. He presented with electrophysiological and pathological features of limb-girdle muscular dystrophy. Genetic testing revealed a homozygote del T521 mutation of the gama-sarcoglycan gene. CONCLUSION: To provide accurate genetic counselling, it is essential to get precise data on family background and diagnostic confirmation for each affected relative to avoid missing the possibility, albeit rare, of several neuromuscular disorders within a family.

Adolescent↗
PubMed2001

Phenotype variability of two FAP families with an identical APC germline mutation at codon 1465: a potential modifier effect?

We report the cases of two familial adenomatous polyposis (FAP) families who presented with the same 2 base pair deletion (AG) at codon 1465 of the adenomatous polyposis coli (APC) gene, but showed phenotypic variability. The mutation was revealed by a simple nonradioactive method using a heteroduplex analysis and identified by a sequence analysis. This observation suggests the responsibility of modifier genes in FAP patients' phenotype.

Adenomatous Polyposis Coli↗
PubMed2000

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

Congenital microphthalmia is a common developmental ocular disorder characterized by shortened axial length. Isolated microphthalmia is clinically and genetically heterogeneous and may be inherited in an autosomal dominant, autosomal recessive, or X-linked manner. Here, we studied a five-generation family of Sephardic Jewish origin that included 38 members, of whom 7 have either unilateral or bilateral microphthalmia of variable severity inherited as an autosomal dominant trait with incomplete penetrance. After exclusion of several candidate loci, we performed a genome-scan study and demonstrated linkage to chromosome 15q12-q15. Positive LOD scores were obtained with a maximum at the D15S1007 locus (maximum LOD score 3.77, at recombination fraction 0.00). Haplotype analyses supported the location of the disease-causing gene in a 13.8-cM interval between loci D15S1002 and D15S1040.

Adolescent↗
PubMed2000

Diagnostic criteria for hereditary hemorrhagic telangiectasia (Rendu-Osler-Weber syndrome).

Hereditary Hemorrhagic Telangiectasia (HHT) is easily recognized in individuals displaying the classical triad of epistaxis, telangiectasia, and a suitable family history, but the disease is more difficult to diagnosis in many patients. Serious consequences may result if visceral arteriovenous malformations, particularly in the pulmonary circulation, are unrecognized and left untreated. In spite of the identification of two of the disease-causing genes (endoglin and ALK-1), only a clinical diagnosis of HHT can be provided for the majority of individuals. On behalf of the Scientific Advisory Board of the HHT Foundation International, Inc., we present consensus clinical diagnostic criteria. The four criteria (epistaxes, telangiectasia, visceral lesions and an appropriate family history) are carefully delineated. The HHT diagnosis is definite if three criteria are present. A diagnosis of HHT cannot be established in patients with only two criteria, but should be recorded as possible or suspected to maintain a high index of clinical suspicion. If fewer than two criteria are present, HHT is unlikely, although children of affected individuals should be considered at risk in view of age-related penetration in this disorder. These criteria may be refined as molecular diagnostic tests become available in the next few years.

Humans↗
PubMed2000

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated hearing loss.

Mutations in the GJB2 gene encoding connexin26 (CX26) account for up to 50% of cases of autosomal recessive hearing loss. In contrast, only one GJB2 mutation has been reported to date in an autosomal dominant form of isolated prelingual hearing loss. We report here a novel heterozygous 605G-->T mutation in GJB2 in all affected members of a large family with late childhood onset of autosomal dominant isolated hearing loss. The resulting C202F substitution, which lies in the fourth (M4) transmembrane domain of CX26, may impair connexin oligomerisation. Finally, our study suggests that GJB2 should be screened for heterozygous mutations in patients with autosomal dominant isolated hearing impairment, whatever the severity of the disease.

Adolescent↗