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Anaesthesia and Wolf-Hirschhorn Syndrome
A.T B senberg
Southern African Journal of Anaesthesia and Analgesia , 2007,
Abstract: A 4-year-old female, weighing 12kg, presented for ENT and dental examination under anaesthesia. Nasal intubation was requested to facilitate the dental examination. On examination she had the distinctive facial features of Wolf-Hirschhorn syndrome that included hyperteleorism, prominent glabella, short “beaked” nose, short philtrum, mild micrognathia and microsomia, but she had no cleft lip or palate, nor iris coloboma. She had generalised hypotonia. She initially failed to thrive because of feeding difficulty, recurrent infections and aspiration pneumonia, requiring numerous hospital admissions. She is developmentally delayed and has a history of convulsions that are controlled with levetiracetam 750mg and lamotrigine 25mg. The PDA noted at birth had closed by 3 months and there was no other cardiac abnormality. She had intra-uterine growth retardation (IUGR) and was delivered prematurely at 34 weeks by emergency Caesarean section to a 34-year old primigravida. At 8 months she underwent an anti-reflux procedure for recurrent aspiration. A feeding gastrostomy was placed at the same time, in view of her difficulty with swallowing and refusal to eat. The Nissen fundoplication was made difficult by a small diaphragmatic hernia. Intubation at that time was noted to be difficult, but not impossible, using a Miller 1 laryngoscope blade. Anaesthesia was uneventful and consisted of a sevoflurane induction, maintenance with isoflurane and a thoracic epidural for peri-operative pain management. There was no suggestion of malignant hyperthermia. On this occasion she required no sedative premedication. On arrival in theatre, she was asleep in her father’s arms and a “steal induction” using sevoflurane was performed. After ascertaining that the larynx could be visualised, albeit with some difficulty, a nasal RAE endotracheal tube was softened in hot water to facilitate passage through the more patent left nostril. A smaller ET tube (4mm) than expected for her age (5mm) was placed atraumatically without muscle relaxants. A throat pack was inserted to prevent potential soiling of the airway. Anaesthesia, lasting 2 hours, was uneventful and she remained normothermic. A paracetamol suppository (250mg), placed prior to surgery, provided adequate postoperative analgesia.
Epilepsy in a child with Wolf-Hirschhorn syndrome
Miti? Vesna,?uturilo Goran,Novakovi? Ivana,Dimitrijevi? Nikola
Srpski Arhiv za Celokupno Lekarstvo , 2011, DOI: 10.2298/sarh1112795m
Abstract: Introduction. Wolf-Hirschhorn syndrome (WHS) is a rare chromosomal disorder characterized by facial dismorphy, multiple congenital anomalies, delayed psychomotor development and pharmaco-resistant epilepsy. Case Outline. We present a 5-year-old girl with severe delay in growth and development, microcephaly, mild facial dismorphy and epilepsy. The pregnancy was complicated by intrauterine growth retardation. Generalized muscle hypotonia was observed at birth. First seizures started at age of 9 months as unilateral convulsive status epilepticus (SE), sometimes with bilateral generalization. Seizures were often triggered by fever and were resistant to antiepileptic treatment. Introduction of lamotrigine and valproate therapy led to complete seizure control at the age of 33 months. Electroencephalographic (EEG) finding was typical at the beginning. After transitory improvement between age four and five years, epileptiform EEG activity appeared again at the age of five years, without observed clinical seizures. Magnetic resonance imaging showed diffuse brain atrophy and delay in myelination. Using Multiplex ligation-dependent probe amplification (MLPA) method, we disclosed heterozygote microdeletation of the distal part of the short arm of chromosome 4 (4p16). Conclusion. We present a clinical course of epilepsy in a patient with Wolf-Hirschhorn syndrome. The diagnosis was verified by modern molecular technique. This is the first molecular characterization of a patient with WHS performed in our country.
Síndrome de Wolf-Hirschhorn: Microdeleción distal del brazo corto del cromosoma 4
AVI?A F,JORGE A; A,DANIEL; HERNáNDEZ,A;
Revista chilena de pediatría , 2008, DOI: 10.4067/S0370-41062008000100007
Abstract: background: wolf-hirschhorn syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. the clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. objetive: describe a clinical case of wolf-hirschhorn syndrome, with specific description of craniofacial dysmorphological features. case report: a female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. conclusions: the fluorescence in situ hybridization (fish) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. a case of probable de novo mutation with deletion of gene whsc1 and other linked contiguous genes
Inflammatory Myofibroblastic Bladder Tumor in a Patient with Wolf-Hirschhorn Syndrome  [PDF]
Antonio Marte,Paolo Indolfi,Carmine Ficociello,Daniela Russo,Matilde Oreste,Gaetano Bottigliero,Giovanna Gualdiero,Ciro Barone,Elena Vigliar,Cristiana Indolfi,Fiorina Casale
Case Reports in Urology , 2013, DOI: 10.1155/2013/675059
Abstract: Inflammatory myofibroblastic tumor (IMT) is a rare neoplasm described in several tissues and organs including genitourinary system, lung, head, and neck. The etiology of IMT is contentious, and whether it is a postinflammatory process or a true neoplasm remains controversial. To our knowledge, we report the first reported case of IMT of urinary bladder in a pediatric patient with Wolf-Hirschhorn (WHS). We also review the literature about patients with associated neoplasia. 1. Introduction IMT is a rare neoplasm usually seen in children and adolescents, mostly occurring between 2–16 years of age. Females are affected slightly more commonly than males. It is also known as cellular inflammatory pseudotumor, plasma cell granuloma, and inflammatory fibrosarcoma and is composed of spindle cells with associated inflammatory cells infiltrate [1]. This type of tumor has been described in several organs and anatomical sites including genitourinary system where the tumor usually originates in the bladder, but it has also been reported in the kidney, urethra, prostate, ureter, and rete testis [2]. The etiology of IMT, its behavior, and its cell of origin remain matters of debate [1]. Originally considered a lesion with a benign clinical course, it is now clear that IMT can have an aggressive behavior and, occasionally, an unfavorable prognosis [3]. For this reason, it is important to differentiate this lesion from sarcoma for therapeutic management, and this can be difficult both clinically and histologically [3]. To gain more knowledge about this rare tumor, we reported a case of IMT of the urinary bladder in a girl with WHS. 2. Case Report A previously healthy 8-year-old female, with WHS, was admitted to our clinic in February 2012 for a persistent abdominal pain and macroscopic hematuria. Abdominal ultrasound revealed a multilobated tumor in the bladder adhering to the left bladder wall. A computerized tomography (CT) scan of abdomen confirmed these findings, and a solid mass (approximate size 5 × 4.5?cm) infiltrating the dome and the left bladder wall not extending to perivesical tissues nor lymph node enlargement was revealed. Due to ultrasonographic (Figure 1) and CT scan features (large base, poor vascularization, multilobated appearance, and size >4?cm), the patient underwent cystoscopic multiple biopsies. Histopathology revealed a spindle cell lesion with mixed inflammatory cells in the background. According to histopathology and immunohistochemical characteristics, a provisional diagnosis of IMT was made. Because of the size of the tumor, a complete
Síndrome de Wolf-Hirschhorn: Microdeleción distal del brazo corto del cromosoma 4 Wolf-Hirschhorn Syndrome: distal microdeletion of chromosome 4 short arm
JORGE A AVI?A F,DANIEL A,A HERNáNDEZ
Revista chilena de pediatría , 2008,
Abstract: Introducción: El síndrome de Wolf-Hirschhorn es una rara enfermedad causada por una anormalidad cromosómica debida a una microdeleción distal del brazo corto del cromosoma 4; sus manifestaciones clínicas son: malformación craneofacial, retardo psicomotor severo, y alteraciones neurológicas diversas. Objetivo: Descripción de un caso clínico de Wolf-Hirschhorn, con énfasis en las alteraciones craneofaciales ilustrativas de la enfermedad. Cuadro clínico: Lactante hipotónico con microcefalia y rostro peculiar de "yelmo guerrero griego": frente amplia, glabela prominente, hipertelorismo, epicanto interno y nariz achatada; paciente con retardo en crecimiento pre y postnatal, retraso psicomotor y convulsiones. La confirmación del diagnóstico se logró con cariotipo de hibridación fluorescente in situ (FISH) mostrando microdeleción distal en brazo corto del cromosoma 4, banda pl5. Conclusión: El caso puede corresponder a una mutación de novo con deleción del gen WHSC1 y otros vecinos pues es un síndrome de genes contiguos Background: Wolf-Hirschhorn Syndrome is a genetic disease, in which the defect is a partial deletion involving the distal part of the short arm of chromosome 4. The clinical manifestations are craniofacial anomalies, delayed psychomotor development and neurological disorders. Objetive: Describe a clinical case of Wolf-Hirschhorn Syndrome, with specific description of craniofacial dysmorphological features. Case report: A female hypotonic infant with microcephaly and facial dysmorphism like "greek helmet": prominent glabela, ocular hypertelorism, epicanthal folds and marked broad-beaked nose, with pre and postnatal severe growth deficiency, mental retardation and seizures. Conclusions: The fluorescence in situ hybridization (FISH) karyotype revealed loss of genetic material at chromosome 4 short arm, with deletion in band 4pl5 confirming the diagnosis. A case of probable de novo mutation with deletion of gene WHSC1 and other linked contiguous genes
Prenatal diagnosis of Wolf-Hirschhorn syndrome (4p-) in association with congenital hypospadias and foot deformity
Halil Aslan, Nilay Karaca, Seher Basaran, Hayri Ermis, Yavuz Ceylan
BMC Pregnancy and Childbirth , 2003, DOI: 10.1186/1471-2393-3-1
Abstract: A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. Sonographic examination revealed deformity of the right lower limb and undescended testes with an irregular distal penis. A cordocentesis was performed and chromosome analysis revealed a 46,XY,del(4)(p14) karyotype.The prenatal detection of intrauterine growth restriction, hypospadias and foot deformity should lead doctors to suspect the presence of Wolf-Hirschhorn syndrome.Wolf-Hirschhorn syndrome (WHS) is a well-known chromosomal disorder first described by Cooper and Hirschhorn in 1961 [1]. Since the first clinical description, more than 120 cases have been reported [2]. It is attributable to partial loss of material from the short arm of chromosome 4, with the majority of cases (87%) being de novo deletions of preferential paternal origin.WHS is characterized by intrauterine growth restriction, mental retardation, characteristic facial dysmorphism, microcephaly, ear lobe anomalies and closure defects (cleft lip or palate, coloboma of the eye, and cardiac septal defects) [3].Prenatal diagnosis of Wolf-Hirschhorn syndrome has been reported in fetuses karyotyped because of routine indications of chromosomal analysis or intrauterine growth restriction with or without associated anomalies [4]. We report a case in which congenital hypospadias and clubfoot was detected prenatally at 29 weeks' gestation in association with intrauterine growth restriction.A 31-year-old gravida 2 partus 1 woman was referred at 29 weeks' gestation with suspicion of intrauterine growth restriction. The couple were healthy, nonconsanguineous, with unremarkable medical history. There was no family history of congenital defects. The woman denied cigarette smoking, use of alcohol, illicit drugs or medication, in addition to any intrauterine teratogenic or infectious exposure. Sonographic examination revealed a single live fetus. Fetal biparietal diameter, abdominal circu
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports  [PDF]
F. Sheth,O. R. Akinde,C. Datar,O. V. Adeteye,J. Sheth
Case Reports in Genetics , 2012, DOI: 10.1155/2012/878796
Abstract: The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16 pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH). 1. Introduction The Wolf-Hirschhorn syndrome (WHS) is a well-known, multiple malformation syndrome, which affects 1 in 50,000 live births with a 2?:?1 female-to-male ratio [1, 2]. WHS is caused by a partial loss of genetic material from the distal portion of the p arm of chromosome 4 and is considered as a contiguous gene syndrome [3]. About 50–60% of the individuals with WHS have a microscopically visible de novo deletion encompassing a 4p16.3 region. The remaining 40%–45% have an unbalanced translocation, where as nearly as 55% can be detected by conventional banding techniques alone. These deletions may be de novo or inherited from a parent with a balanced rearrangement [4, 5]. In more than 95% of the cases, these deletions are diagnosed by fluorescent in situ hybridization (FISH) using Wolf-Hirschhorn syndrome critical region (WHSCR) specific probes. WHS has attracted considerable attention and is associated with a variety of clinical features ranging from mild to severe mental retardation, hypotonia, growth delay, seizures, and specific craniofacial manifestations [2]. Some of these individuals do not display features consistent with WHS, whereas others have a clinical presentation with some overlap to the WHS phenotype. Deletion in the WHSCR regions have been considered as the hallmark of WHS. Mapping efforts have identified two different sized overlapping deletions defining the Wolf-Hirschhorn syndrome critical region 1 and 2 (WHSCR 1 and 2) [2, 6, 7]. These regions are suggested as being responsible for at least two of the core clinical manifestations of WHS—the developmental
Widening the clinical spectrum of Pitt-Rogers-Danks/Wolf-Hirschhorn syndromes
Mazzeu, Juliana F.;Krepischi-Santos, Ana Cristina;Rosenberg, Carla;Louren?o, Charles M.;Lezirovitz, Karina;Szuhai, Karoly;Martelli, Lúcia R.;Vianna-Morgante, Angela M.;
Genetics and Molecular Biology , 2007, DOI: 10.1590/S1415-47572007000300007
Abstract: chromosomal rearrangements involving partial deletion of the short arm of chromosome 4 and partial duplication of the short arm of chromosome 8 have been described both in pitt-rogers-danks syndrome (prds) and wolf-hirschhorn syndrome (whs), the former being considered a milder phenotype of the latter. we describe a patient with partial deletion of chromosome 4 and partial duplication of chromosome 8 documented by array-comparative genomic hybridization (array-cgh). in addition to the typical features of prds, the patient exhibited some clinical signs (genital hypoplasia, radioulnar synostosis and mesomelic limb shortness) infrequently, or never previously, reported in prds. these findings broaden the spectrum of anomalies generally associated with these syndromes.
Extremely Low Birthweight Infant with Wolf-Hirschhorn Syndrome: A Dilemma in Determination of the Optimal Timing of Delivery
Shigeo Iijima,Takehiko Ohzeki
Clinical Medicine : Case Reports , 2008,
Abstract: Wolf-Hirschhorn syndrome (WHS) is characterized by multiple malformations as well as mental and developmental defects resulting from the absence of a distal segment of the short arm of chromosome 4. We experienced an extremely low birthweight infant with WHS. The male infant (birthweight 934 g) was born at 31 weeks’ gestation by cesarean section due to intrauterine growth restriction and presented with the typical WHS phenotype. Chromosomal analysis showed a deletion: 6,XY,del(4)(p15.3 p16). Although the patient’s respiratory distress syndrome resolved favourably and his subsequent condition was also stable, he had unusually severe retinopathy of prematurity and periventricular leukomalacia. We suppose that these severe complications were associated with not only prematurity but also with latent structural fragility due to WHS. Herein, we discuss the prenatal detection of WHS and the optimal timing of delivery.
Genotype-Phenotype Characterization of Wolf-Hirschhorn Syndrome Confirmed by FISH: Case Reports
F. Sheth,O. R. Akinde,C. Datar,O. V. Adeteye,J. Sheth
Case Reports in Genetics , 2012, DOI: 10.1155/2012/878796
Abstract: The Wolf-Hirschhorn syndrome (WHS) is a multiple malformation and contiguous gene syndrome resulting from the deletion encompassing a 4p16.3 region. A microscopically visible terminal deletion on chromosome 4p (4p16pter) was detected in Case 1 with full blown features of WHS. The second case which had an interstitial microdeletion encompassing WHSC 1 and WHSC 2 genes at 4p16.3 presented with less striking clinical features of WHS and had an apparently “normal” karyotype. The severity of the clinical presentation was as a result of haploinsufficiency and interaction with surrounding genes as well as mutations in modifier genes located outside the WHSCR regions. The study emphasized that an individual with a strong clinical suspicion of chromosomal abnormality and a normal conventional cytogenetic study should be further investigated using molecular cytogenetic techniques such as fluorescence in situ hybridization (FISH) or array-comparative genomic hybridization (a-CGH).
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