Case Of Waardenburg Syndrome Research Articles

Waardenburg Syndrome Anesthetic Management: Two Cases Experiences

This article presents the anesthetic management of two cases of Waardenburg syndrome (WS) in patients undergoing cochlear implantation. Mutations in genes that control the neural crest cell migration and division during the embryonic period are the hallmark of the hereditary disorder known as WS. White forelock, bright blue eyes, heterochromia from iris coloring deficiency, unusual facial deformities, and sensorineural deafness are the key phenotypic characteristics of WS. The anesthetic management of patients with WS poses challenges due to their multisystem abnormalities.

Etiologies of Childhood Hearing Impairment in Schools for the Deaf in Mali.

Objectives: To identify the etiologies of hearing impairment (HI) in schools for students who are deaf and to use a systematic review to summarize reports on the etiologies and clinical and genetic features of HI in Mali.Methods: We included individuals with HI that started before the age of 15 years old. Patients were carefully evaluated under standard practices, and pure-tone audiometry was performed where possible. We then searched for articles published on HI in the Malian population from the databases' inception to March 30, 2020.Results: A total of 117 individuals from two schools for the deaf were included, and a male predominance (sex ratio 1.3; 65/52) was noted. HI was pre-lingual in 82.2% (n = 117), and the median age at diagnosis was 12 years old. The etiologies were environmental in 59.4% (70/117), with meningitis being the leading cause (40%, 20/70), followed by cases with genetic suspicion (29.3%, 21/117). In 11.3% (8/117) of patients, no etiology was identified. Among cases with genetic suspicion, three were syndromic, including two cases of Waardenburg syndrome, while 15 individuals had non-syndromic HI. An autosomal recessive inheritance pattern was observed in 83.3% of families (15/18), and consanguinity was reported in 55.5% (10/18) of putative genetic cases.Conclusion: This study concludes that environmental factors are the leading causes of HI in Mali. However, genetic causes should be investigated, particularly in the context of a population with a high consanguinity rate.

A Rare Case of Waardenburg-Shah Syndrome without Family History

BACKGROUND: Waardenburg syndrome (WS) is an uncommon genetic disorder that is most often characterized by pigmentary disturbance and lateral displacement of inner iris with variety of sensorineural deafness. The prevalence of this syndrome is about 1/42.000–1/50.000 on population. There are approximately 48 cases of WS with Hirschsprung disease (HD) which were being reported up to 2002. CASE REPORTS: A 7-year-old, Asian boy, routine patient of Pediatric-Surgery Department with HD was transferred from Pediatric-Surgery Department of Haji Adam Malik Hospital Medan to Ophthalmology Department of Universitas Sumatera Utara Hospital Medan with progressive abdominal distance and first ophthalmic evaluation. The patient is accompanied by a history of Hirschsprung disease, malnutrition, and sensorineural hearing loss. There was no family history being discovered. He is responding to visual command. Anterior segment examination showed that there were two different colors of iris – blue colored of the whole left iris and partial right iris. Fundoscopy showed pale retina on both eyes. CONCLUSION: This patient is diagnosed with Waardenburg-Shah syndrome type IV. It is directly reality with a kind of other congenital disease like HD and no further treatment is needed.

Simultaneous Bilateral Cochlear Implantation in a Case of Waardenburg Syndrome – A Case Report and Review of Literature

We report a case of Waardenburg Syndrome (WS) who underwent simultaneous bilateral cochlear implantation and the evolution of auditory performance over a 5 year follow-up. Examination revealed a white forelock with iris heterochromia and confluent eyebrows (synophoris). Audiometric evaluation revealed bilateral profound sensorineural hearing loss. High resolution tomography of temporal bone showed normal inner ear anatomy and subsequently child underwent bilateral cochlear implantation which was followed by regular postoperative rehabilitation and speech therapy.

Ophthalmological features and treatments in five cases of Waardenburg syndrome.

The present study aimed to investigate the ocular characteristics and treatment of Waardenburg syndrome (WS). A total of five patients with Waardenburg syndrome from our hospital, aged between 1 and 8 years, were included in the present study. The clinical data of these patients were analyzed, and the ocular manifestations and treatments were described. The general manifestations included hearing loss (1/5), broad high nasal root (2/5) and hypoplasia of alae nasi (2/5). Ophthalmological evaluations revealed ptosis (1/5), strabismus 1 (1/5), synophrys (2/5), telecanthus (5/5), iris hypopigmentation (5/5), high intraocular pressure (1/5) and choroidal hypopigmentation (1/5). For patients with characteristic external eye abnormalities, including ptosis, ocular plastic surgery was performed. For patients with only symptoms of iris heterochromia, no special treatment was required. The findings from the present study suggest that patients with WS may have several characteristic ocular manifestations. Abnormalities in the eyelid can be corrected by ocular plastic surgery, which is beneficial to children's physical and mental development.

Waardenburg syndrome with isolated deficiency of myenteric ganglion cells at the sigmoid colon and rectum.

Waardenburg syndrome (WS) has the characteristic clinical features caused by the embryologic abnormality of neural crest cells. WS patients sometimes suffer from functional intestinal obstruction. When it is Hirschsprung disease (HD), the WS is diagnosed as type 4 WS. We report a case of WS which did not have myenteric ganglion cells in the sigmoid colon and rectum. Whether to diagnosis this case as type 1 or 4 WS is controversial. Moreover, this is the third report which has peristalsis failure caused by abnormal myenteric plexus. In all three cases, the eosinophils had aggregated in the myenteric layer of the transition zone. During embryonic life, enteric ganglion cells migrate to the myenteric layer from the proximal to the distal side sequentially and, subsequently, to the submucosal layer through the circular muscle. Therefore, we hypothesize that myenteric ganglion cells that had already migrated were eliminated by an eosinophil-mediated mechanism in these three cases. We believe this report may be helpful to elucidate the pathogenesis of some types of HD.

English

INTRODUCTION ; Neurocutaneous disorders are genetically determined disorders showing both cutaneous and neurologic involvement. The definition includes both hereditary and nonhereditary phenotypes but excludes acquired disorders. Either they follow the established Mendelian modes of inheritance or they represent lethal mutations surviving by mosaicism, or they belong to the group of chromosomal disorders. Some clinicians still use phacomatosis to categorize particular neurocutaneous diseases characterized by patchy lesions involving the skin and the nervous system. Unfortunately, this term has diminished rather than increased our understanding of these disorders because the group of phacomatoses has never been well defined. Today, this term should no longer be used for the classification of neurocutaneous diseases but may be applied, together with a specifying adjective, to some genetically determined diseases characterized by the presence of multiple nevi, such as phacomatosis pigmentovascularis. AIM OF THE STUDY : 1. To study the incidence of Neurocutaneous disorders in the outpatients attending the Department of Dermatology in Government General Hospital, Chennai, from July 2006 to September 2008. 2. To determine the age and sexwise distribution of Neurocutaneous disorders. 3. To study the clinical morphology and distribution of lesions. 4. To correlate the morphological lesions with the histopathological freatures. 5. To evaluate incidence of associated systemic abnormalities. 6. To determine the involvement in other family members. CONCLUSION 1. In the study of 109 cases of Neurocutaneous syndromes, Neurofibromatosis topped the list followed by Tuberous sclerosis complex. 2. NF – Type –I accounted for the maximum number of Neurofibromatosis. 3. The most common clinical sign in NF was CALM followed by mollusca fibrosa. 4. Axillary, inguinal, palmar and plantar freckling were the notable pigmentary changes in NF. 5. Lisch nodules accounted for 81.3% of the cases in NF. 6. Skeletal abnormalities in the form of kyphoscoliosis, local gigantism and facial asymmetry were reported. 7. One case of sarcoma complicating NF was observed. 8. A case of NF-II with multiple intracranial tumours in MRI was detected. 9. Tuberous sclerosis complex is the second most common neurocutaneous disorder. 10. Angiofibroma was observed in 100% cases followed by ash leaf macules (85%). 11. Few patients had sub-ependymal nodules and cortical tubers. 12. One patient with astrocytoma and one patient with renal angiomyolipoma were observed. 13. Classical features of XP were observed in a patient who also had cutaneous malignancies – BCC over the nose and SCC over the cheek. 14. Sturge – Weber syndrome with unilateral port wine stain with seizures was reported in our study. 15. One case of unilateral naevus comedonicus was reported. 16. Two cases of Waardenburg syndrome ( mother and child ) was observed in our study. Both had white forelock, heterochromia iridis and deafness. 17. Two cases of epidermal naevus syndrome with extensive involvement and seizures were noted. 18. Two cases of giant congential melanocytic naevus were reported. 19. A case of Elejalde syndrome with typical clinical manifestations was observed. 20. One case of oculocutaneous albinism was reported. 21. One case of Adams Oliver syndrome with Dandy Walker malformation has been reported.

A Case of Waardenburg Syndrome Type 1

Deafness is a common childhood problem. Serious hearing impairment is found in one in 800 new-borns. Deafness can be broadly categorized into syndromic (deafness associated with other symptoms) or nonsyndromic (deafness associated with no other symptoms) [1]. Only 30% of congenital deafness is syndromic. The following is a case of Waardenburg syndrome. The child having classical clinical features of (1) Dystopia canthorum (2) Pigmentary abnormalities of hair, skin, and iris (white forelock) (3) Sensorineural deafness. The genes that are found associated with this syndrome are PAX3, MITF, SLUG, EDNRB, EDN3, and SOX10. These genes when mutated either cause or predispose to progressive deafness. The otoacoustic emission study and brain stem evoked response audiometry study was done in this child and, the child was found to have a severe degree of sensorineural deafness. The child’s ECHO reports were normal. There was no clinical feature suggestive of Hirschsprung’s disease or Limb abnormality. This condition is usually inherited as autosomal dominant variety [3]. There are 4 types of Waardenburg’s syndrome. All the clinical features suggest that the child belong to type 1 Waardenburg’s syndrome.

The Transcription Factor Onecut-2 Controls the Microphthalmia-Associated Transcription Factor Gene

Microphthalmia-associated transcription factor (MITF) is essential for melanocyte differentiation. MITF mutations are associated with some cases of Waardenburg syndrome (WS) type 2. WS is a dominantly inherited disease characterized by auditory-pigmentary defects that result from the absence of melanocytes. The lack of mutation in MITF coding sequences in some WS2 patients suggests that unidentified factors controlling MITF expression might be involved. We show here that the cut-homeodomain transcription factor Onecut-2 (OC-2) is expressed in melanocytes and binds to the MITF gene promoter. Overexpression of OC-2 in transfected cells stimulates MITF promoter activity. Mutations that prevent OC-2 binding decrease MITF promoter activity by 75%. Based on these results, we searched in 56 WS2 patients for mutations in the OC2 gene or in OC-2 binding sites in the MITF promoter, but none was found. These results show that OC-2 stimulates MITF expression and that OC2 is a candidate gene, but not a common cause, of WS.

Partial anodontia in a case of Waardenburg's syndrome

On routine examination of a case of Waardenburg's syndrome apart from the usual features of the disorder, partial anodontia involving both the lower lateral incisors was evident. The interesting association of partial anodontia and Waardenburg's syndrome is discussed along with relevant available literature.