Gender Affects Clinical Suspicion of Down Syndrome

Frequency of down syndrome: an experience of a tertiary care diagnostic laboratory in India

International Journal of Advances in Medicine ◽

10.18203/2349-3933.ijam20175188 ◽

2017 ◽

Vol 4 (6) ◽

pp. 1672

Author(s):

Shailesh Pande ◽

Vidya Salaskar ◽

Anurita Pais ◽

Gauri Pradhan ◽

Smita Patil ◽

...

Keyword(s):

Down Syndrome ◽

Tertiary Care ◽

Recurrence Risk ◽

Clinical Suspicion ◽

Chromosome 21 ◽

Extensive Literature ◽

Mosaic Pattern ◽

Extra Copy ◽

Diagnostic Laboratory ◽

Paediatric Age

Background: Down syndrome or Trisomy 21 is a genetic condition involving the presence of extra copy of chromosome 21. It is the most common chromosomal abnormality within paediatric age group. The objective of our study was to determine the frequency of Down syndrome and its various cytogenetic types in cases with clinical suspicion of Down syndrome received at the Department of Cytogenetics, Metropolis Healthcare Limited, Mumbai, India.Methods: Our study was performed on peripheral blood (2-3 ml) collected in Sodium Heparin Vacutainers obtained from 714 patients with clinical suspicion of Down syndrome. All the samples were requested for GTG staining and banding, while the cultures were set and analysed by GTG–banding at 450-550 band level. The period of our study was from January-2015 to December-2016.Results: Out of 714 samples referred, about 657 showed trisomy of chromosome 21. While, out of 657 cases, 551 (83.87%) cases were detected with free trisomy, Robertsonian translocation in 52 cases (7.91%), Mosaic pattern in 16 cases (2.44%). Our study also recorded trisomy with additional polymorphic variation in 35 cases (5.33%) and 3 cases (0.46%) with additional abnormality.Conclusions: According to the extensive literature available which states that the clinical diagnosis of Down syndrome is relatively easy, it is the pattern of chromosomal aberration that is extremely important. Identification of this pattern will assist in the estimation of the possibility of recurrence risk while counselling the parents. Overall, it will benefit the couple to arrive at an informed decision and will eventually minimize the frequency of disease in the society. Moreover, it will also assist the close blood relatives to know their risk of having baby with Down syndrome. It is to be noted that since the study was performed in a tertiary care laboratory, the percentage of cytogenetic.

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Ossicular Erosion from a Posterior Pars Tensa Retraction Cholesteatoma

Philippine Journal of Otolaryngology Head and Neck Surgery ◽

10.32412/pjohns.v28i2.485 ◽

2018 ◽

Vol 28 (2) ◽

pp. 33

Author(s):

Nathaniel W. Yang

Keyword(s):

Down Syndrome ◽

High Resolution ◽

Soft Tissue ◽

Middle Ear ◽

External Auditory Canal ◽

Ossicular Chain ◽

Clinical Suspicion ◽

Soft Tissue Lesion ◽

Children With Down Syndrome ◽

The Right

A 14-year old female with Down syndrome presented with a 3-year history of recurrent purulent left otorrhea. The discharge had become more frequently blood-tinged. Otologic examination revealed a stenotic ear canal with polypoid granulation obstructing the view of the tympanic membrane. High resolution computerized tomographic (HRCT) imaging of the temporal bone was performed to assess the status of the middle ear and mastoid. Particular attention was given to assess for bony erosion associated with cholesteatoma formation. Comparison of the scutum on coronal view (Figure 1) did not show a marked visual difference in the sharpness of the scutum edge. As erosion of the scutum edge is the hallmark radiological finding in the diagnosis of a pars flaccida or attic retraction-based acquired cholesteatoma, a confident radiologic diagnosis of cholesteatoma via this pathophysiologic mechanism could not be given. Figure 1.Coronal HRCT images of the scutum. The left scutum (white arrow) does not appear to be blunted when compared to the right scutum, which is known to be intact. The left middle ear space is entirely filled with a soft tissue lesion, whilst there is only soft tissue in the right epitympanum lateral and superior to the ossicles. Meticulous examination of the ossicles on axial view (Figure 2) showed a subtle thinning of the short process of the incus by sharply marginated, seemingly expansile soft tissue medially located between the incus and the tympanic segment of the facial nerve. Exploratory surgery via an initial external end-aural approach revealed the presence of a posterior pars tensa retraction cholesteatoma underneath the granulation polyp. The cholesteatoma had extended medial to the ossicular chain, causing erosion of the long process and medial portion of the short process of the incus, as well as the entire stapes superstructure. Definitive surgery consisting of a canal-wall down mastoidectomy via a post-auricular approach, cartilage graft tympanoplasty without ossicular chain reconstruction, meatoplasty and partial mastoid obliteration was performed. This case is particularly instructive with regards to two issues: otologic disease in Down syndrome and radiological evidence of erosive middle ear disease. An increased incidence of otologic conditions in Down syndrome is well established in the medical literature. These include external auditory canal stenosis, ossicular chain abnormalities and otitis media with effusion (OME).1,2 Cholesteatoma as a sequelae of undiagnosed or untreated OME has to be suspected in children with Down syndrome, especially in those with recurrent otorrhea and persistent hearing loss. Unfortunately, the identification of a cholesteatoma may be difficult due to stenosis of the external auditory canal or a sub-optimal otologic examination due to behavioral problems in children with Down syndrome.2 These factors were both present in this particular case, as the cholesteatoma remained undiagnosed for several years despite regular consultations with an otolaryngologist. Radiologic evaluation with high-resolution computerized tomographic (HRCT) imaging is extremely important in these situations. As described by Barath et al., the “typical findings associated with cholesteatoma include a sharply marginated expansile soft-tissue lesion, retraction of the tympanic membrane, scutum blunting, and erosion of the tympanic tegmen and ossicles. Holotympanic absence of bony changes is suggestive of otitis media without cholesteatoma formation, whereas presence of bony erosions (along with clinical suspicion) indicates cholesteatoma.”3 In this particular case, the presence of soft tissue within the epitympanum and antrum accompanied by the subtle evidence of ossicular erosion were crucial in the decision to advise and perform surgery. Although it may be argued that a high clinical suspicion based on the suggestive otological history in a child with Down syndrome may be enough to warrant surgical exploration, it cannot be disputed that the radiological findings help in advising patients pre-operatively about the indications for and expected outcomes of surgical management. In this case, it also impacted on the surgical approach – a transmeatal procedure appropriate for a limited middle ear exploration was initially performed, with conversion to a standard post-auricular approach appropriate for more extensive mastoid surgery once the presence and extent of the cholesteatomatous disease was confirmed intra-operatively.

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A Male with Cooccurrence of Down Syndrome and Fragile X Syndrome

Case Reports in Genetics ◽

10.1155/2013/504695 ◽

2013 ◽

Vol 2013 ◽

pp. 1-4 ◽

Cited By ~ 1

Author(s):

Tovi Anderson ◽

Allison Buterbaugh ◽

Kaitlin Love ◽

Jeannie Visootsak

Keyword(s):

Down Syndrome ◽

Fragile X Syndrome ◽

Fragile X ◽

Clinical Suspicion ◽

Accurate Diagnosis ◽

Maladaptive Behavior ◽

Secondary Diagnosis ◽

Newborn Period ◽

Pharmacologic Treatments

Down syndrome is the most common identifiable genetic cause of intellectual disability, with a unique physical gestalt that makes diagnosis possible during the newborn period. However, the physical characteristics of Fragile X syndrome are fairly subtle, resulting in the first clinical suspicion often arising from delayed developmental milestones. In addition, maladaptive behavior and autistic-like tendencies, such as hand flapping, poor eye contact, and hand biting, may be noted in Fragile X syndrome but are not as commonly observed in Down syndrome. Recognition of a potential secondary diagnosis, such as Fragile X syndrome, in individuals with Down syndrome is critical because there have been advances in targeted pharmacologic treatments for both conditions. Thus, an accurate diagnosis has implications in improving the individual's quality of life.

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Miliary tuberculosis presenting with acute respiratory distress syndrome in a patient with down syndrome

Vojnosanitetski pregled ◽

10.2298/vsp180129108n ◽

2020 ◽

Vol 77 (6) ◽

pp. 651-656

Author(s):

Ljiljana Novkovic ◽

Zorica Lazic ◽

Marina Petrovic ◽

Ana Vujic ◽

Andjelka Stojkovic ◽

...

Keyword(s):

Mechanical Ventilation ◽

Down Syndrome ◽

Acute Respiratory Distress Syndrome ◽

Respiratory Distress Syndrome ◽

Respiratory Distress ◽

Distress Syndrome ◽

Miliary Tuberculosis ◽

Clinical Suspicion ◽

Cell Mediated Immunity ◽

High Clinical Suspicion

Introduction. Miliary tuberculosis (TB) is a rare and potentially fatal form of disseminated TB. It is caused by a widespread haematogenous dissemination of Mycobacterium tuberculosis from an active caseous focus to different organs. Sometimes it can have an acute presentation with a rapidonset clinical deterioration and death. Miliary TB complicated with an acute respiratory distress syndrome (ARDS) requiring mechanical ventilation (MV) is rare, even in countries with a high incidence of TB. Case report. A 35-yearold woman with Down syndrome (DS) was admitted to the Clinic for Pulmonology, Clinical Centre Kragujevac, due to an evaluation of cough and weight loss during last 2 months. Laboratory findings revealed anaemia, leukocytosis, elevated C-reactive protein (CRP) and hypoalbuminemia. A chest x-ray showed bilateral reticulonodular shadows, predominantly in the mid and lower right lung lobes. A purified protein derivative (PPD) skin test and induced sputum smear for acid-fast bacilli (AFB) were both negative. On the fifth day following admission, her health condition suddenly declined, and after developing a moderate ARDS, she was put on the mechanical ventilation. Due to a high clinical suspicion of miliary TB and the fact that her life was compromised, an empirical anti-tuberculosis therapy was initiated. Despite all therapeutic and supportive measures, the patient expired 3 days later. The diagnosis of miliary TB was established post-mortem. Conclusion. Miliary TB should be kept in mind in patients with DS due to immunosuppression associated with deficient cell-mediated immunity. The development of ARDS as a complication of miliary TB is difficult to identify due to a low causal association. High clinical suspicion and a chest radiograph with a typical appearance of miliary pattern justify the initiation of empirical anti-tuberculosis treatment in such patients, as an attempt to change poor prognosis.

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