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Journal of Pediatric Ophthalmology and... 2021Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. Although many organ systems are affected phenotypically, the ocular...
Tetrasomy 18p is often the result of an additional isochromosome for the short arm of chromosome 18. Although many organ systems are affected phenotypically, the ocular manifestations associated with tetrasomy 18p have not been well characterized in the literature. This case report presents the ocular and facial features associated with tetrasomy 18p in a 4-year-old Black girl, along with a review of clinical presentations previously reported in the literature. A systematic review of the literature in PubMed was conducted to summarize the reported eye, ocular adnexa, and distinctive facial features in individuals with confirmed tetrasomy 18p. Searching "Tetrasomy 18p" generated 65 article results, of which 28 articles had sufficient eye and facial descriptions. Including the patient in this report, 90 patients had confirmed tetrasomy 18p. The most common features noted in these 90 patients, with a roughly equal male-to-female ratio of impact (7:8), were as follows: microcephaly (57%), triangular facies (18%), anomalous palpebral fissures (31%), strabismus (48%), low-set ears (52%), hearing loss to some extent (16%), depressed or flat nasal bridge (18%), smooth philtrum (41%), thin upper lip (27%), and highly arched palate (21%). Additionally, many were noted to have feeding difficulties (28%), developmental delay (58%), and abnormal brain findings on imaging (20%). Muscle tone was abnormal in 23% of the patients. This report elucidates the reoccurring eye, ocular adnexa, and distinctive facial features associated with tetrasomy 18p. This knowledge may assist in timely diagnosis and encourage providers to use a multidisciplinary approach for the treatment of affected individuals. .
Topics: Aneuploidy; Child, Preschool; Chromosomes, Human, Pair 18; Eye; Female; Humans; Male
PubMed: 34851787
DOI: 10.3928/01913913-20210826-01 -
Neurosurgical Review Mar 2023A series of 5 patients treated with the fourth ventricle to spinal subarachnoid space stent (FVSSS) is presented. Indication for surgery, surgical technique,...
A series of 5 patients treated with the fourth ventricle to spinal subarachnoid space stent (FVSSS) is presented. Indication for surgery, surgical technique, pre-operative and post-operative images, and outcome are analyzed. A systematic review of the pertinent literature has also been performed. This is a retrospective cohort review of a series of 5 consecutive patients with refractory syringomyelia who underwent a fourth ventricle to spinal subarachnoid space shunt surgery. The surgical indication was based on the presence of refractory syringomyelia in patients already treated for Chiari malformation or in patients who developed scarring at the level of the outlets of the fourth ventricle following posterior fossa tumor surgery. The mean age at FVSSS was 11.30 ± 5.88 years. Cerebral MRI revealed crowded posterior fossa, with a membrane at the level of the foramen of Magendie. Spinal MRI showed syringomyelia in all patients. Before surgery, the averages of the craniocaudal and the anteroposterior diameter were 22.66 and 1.01 cm, respectively, whereas the volume was 28.16 cm. The post-operative period was uneventful in 4 out of 5 patients; one child died on the 1st post-operative day due to complications unrelated to surgery. In remaining cases, syrinx marked improvement. The post-operative volume was 1.47 cm with an overall reduction of 97.61%. With regard to literature, 7 articles with a total of 43 patients were analyzed. After FVSSS, syringomyelia reduction was observed in 86.04% of cases. Three patients underwent reoperation due to syrinx recurrence. Four patients presented a catheter displacement, one a wound infection and meningitis and one CSF leak requiring placement of a lumbar drain. FVSSS is highly effective in restoring CSF dynamics, with dramatic improvement of syringomyelia. In all our cases, the volume of the syrinx was reduced by at least 90%, with improvement/resolution of accompanying symptomatology. This procedure should be reserved to patients in which other causes of gradient pressure between the fourth ventricle and subarachnoid space are excluded, for example, tetraventricular hydrocephalus. Surgical procedure is not simple, because it requires meticulous microdissection of cerebello-medullary fissure and upper cervical spine, in already operated patients. To avoid migration of the stent, it should be carefully sutured to the dura mater or thick arachnoid membrane.
Topics: Adolescent; Child; Child, Preschool; Humans; Arnold-Chiari Malformation; Decompression, Surgical; Fourth Ventricle; Magnetic Resonance Imaging; Retrospective Studies; Stents; Subarachnoid Space; Syringomyelia; Treatment Outcome
PubMed: 36905420
DOI: 10.1007/s10143-023-01972-y -
American Journal of Medical Genetics.... Jun 2023The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated...
The 6p25 deletion syndrome is a rare genetic disorder characterized by a wide spectrum of congenital anomalies. Ophthalmic abnormalities appear to be highly associated with the syndrome, although this relationship has not been well characterized to date. We conducted a systematic literature review to highlight the ocular features in patients with this deletion syndrome and describe a 7-month-old female who has a 6.07 MB 6p25.1p25.3 deletion and a 4.25 MB 17q25.3 duplication. Our patient presented with multiple congenital anomalies, including macrocephaly, frontal bossing, low set ears, tent-shaped mouth, saddle nose, flat midface, and hearing impairment. Her ophthalmic features included proptosis, down-slanting palpebral fissures, hypertelorism, nystagmus, bilateral posterior embryotoxon, and decentered and abnormally shaped pupils. A systematic review of the published cases with sufficient clinical eye descriptions included 63 cases with a confirmed 6p25 deletion. The most common eye findings observed were posterior embryotoxon, iris hypoplasia, corectopia, cornea opacity, and glaucoma.
Topics: Humans; Female; Infant; Chromosome Deletion; Eye Abnormalities; Glaucoma; Syndrome; Chromosomes
PubMed: 36941760
DOI: 10.1002/ajmg.a.63186 -
European Journal of Translational... May 2022Low back pain (LBP) is a common clinical problem imposing a prominent socio-economic burden. The purpose of this systematic review was to investigate the biopsychosocial...
Low back pain (LBP) is a common clinical problem imposing a prominent socio-economic burden. The purpose of this systematic review was to investigate the biopsychosocial effects of the Mulligan Concept (MC) of manual therapy (MT) when applied to patient's with LBP. Three researchers independently evaluated the literature quality, and completed a review on five online databases (Medline, Cochrane Library, Science Direct, ProQuest and Google Scholar) for articles published from January 1st 2010 to November 20th 2021, using a combination of free words, Wildcards and Medical Subject Headings (MESH) terms: " Mulligan mobilization " AND " back pain " OR " SNAGs." In total, 62 studies were selected for full-text reading, from which finally 6 studies were included in the present review. The results revealed that the studies where the MC of MT was applied to treat LBP mainly lacked concern regarding the effect that the intervention has on the cognitive and behavioural parameters. The ones that introduced measure outcomes for at least some parts of the cognitive behavioural components, showed that the MC has a positive effect, even though without a long-term follow-up assessment. This review summarized that the evidence of the MC on cognitive behavioural (CB) aspects of patients with LBP is controversial and scarce.
PubMed: 35588313
DOI: 10.4081/ejtm.2022.10504 -
Case Reports in Genetics 2020Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by...
Shprintzen-Goldberg craniosynostosis syndrome (SGS) is a rare autosomal dominant condition that was first documented in literature in 1982. The disorder is caused by pathogenic variants in the proto-oncogene gene, a known suppressor of TGF- activity, located on chromosome 1p36. There is considerable phenotypic overlap with Marfan and Loeys-Dietz syndromes. Common clinical features of SGS include craniosynostosis, marfanoid habitus, hypotonia, dysmorphic facies, cardiovascular anomalies, and other skeletal and connective tissue abnormalities. Ocular manifestations may include hypertelorism, downslanting palpebral fissures, proptosis, myopia, and ectopia lentis. We describe a 25-year-old male with the syndrome. Genetic analysis revealed a novel c.350G>A (p.Arg117His) variant, which was predicted to be pathogenic by the CTGT laboratory. The patient presented with dysmorphic features, marfanoid habitus, severe joint contractures, mitral valve insufficiency, aortic root dilatation, and a history of seizures. His ocular manifestations included hypertelorism, downslanting palpebral fissures, bilateral ptosis, and high myopia. Ophthalmic manifestations are an integral component of the syndrome; however, they have not been well characterized in the literature. From a systematic review of previously published cases to date, we summarize the eye and ocular adnexa manifestations reported.
PubMed: 33628537
DOI: 10.1155/2020/7353452 -
European Journal of Medical Genetics Jun 2021Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable...
Kabuki syndrome (KS) is a genetic disorder caused by pathogenic variants in KMT2D or KDM6A, and manifesting with multi-systemic involvement, including recognizable facial features, developmental delay and multiple congenital anomalies. Ophthalmological involvement has been described in varying rates in several studies. We aimed to evaluate the prevalence and nature of ophthalmological findings in a cohort of KS patients in Israel. Medical records of all patients diagnosed with KS in our tertiary center between 2004 and 2020 were retrospectively reviewed. Data collected included physical examination findings, molecular analysis as well as comprehensive ophthalmic characteristics including visual acuity, ocular alignment and motility, ocular adnexa, anterior segments and dilated fundus exams. Finally, an updated systematic review of the literature was performed. Thirteen unrelated patients were included in the study, diagnosed at an age raging from the first months of life to 20 years. Of these, three (23%) showed significant ophthalmological abnormalities, beyond the characteristic structural findings of long palpebral fissures and lower eyelid eversion. These included bilateral posterior colobomata in the first patient; bilateral ptosis, hypermetropia, esotropia, blue sclera and anisocoria in the second; and bilateral congenital cataracts in the third. To conclude, our findings underscore the importance of a comprehensive ophthalmological evaluation as part of the routine multidisciplinary assessment of children suspected/diagnosed with KS.
Topics: Abnormalities, Multiple; Adolescent; Child; Child, Preschool; DNA-Binding Proteins; Eye Abnormalities; Face; Hematologic Diseases; Histone Demethylases; Humans; Infant; Neoplasm Proteins; Vestibular Diseases; Visual Acuity
PubMed: 33794347
DOI: 10.1016/j.ejmg.2021.104210 -
International Journal of Pediatric... Feb 2016We describe the surgery and reconstruction employed with a sternocleidomastoid myocutaneous flap for the treatment of a heterotopic glioma in a 2-year-old boy with... (Review)
Review
Myocutaneous sternocleidomastoid flap for reconstruction after the resection of a parapharyngeal heterotopic glioma in a child with cleft palate, and systematic review of parapharyngeal glial heterotopia.
We describe the surgery and reconstruction employed with a sternocleidomastoid myocutaneous flap for the treatment of a heterotopic glioma in a 2-year-old boy with incomplete palatal fissure who presented with dysphagia and snoring, in whom a lateral pharyngeal wall mass obstructing 60% of the airway was noted. Heterotopic gliomas are uncommonly reported in the parapharyngeal space and should be included in the differential diagnosis at this location in children. Parapharyngeal tumors present difficult diagnostic and management challenges; head and neck surgeons must be prepared not only for the resection but also for the reconstruction of these rare lesions.
Topics: Child, Preschool; Choristoma; Cleft Palate; Glioma; Humans; Male; Muscle, Skeletal; Pharyngeal Neoplasms; Pharynx; Plastic Surgery Procedures; Surgical Flaps; Tomography, X-Ray Computed
PubMed: 26810290
DOI: 10.1016/j.ijporl.2015.12.003 -
Annales de Dermatologie Et de... Oct 2018Little information is available on the prevalence and clinical aspects of tongue involvement in children with psoriasis. The aim was to evaluate the prevalence, clinical...
BACKGROUND
Little information is available on the prevalence and clinical aspects of tongue involvement in children with psoriasis. The aim was to evaluate the prevalence, clinical aspects and risk factors concerning tongue involvement in children with psoriasis.
PATIENTS AND METHODS
This study was carried out in two stages. We performed a multicentre, cross-sectional study in 23 French dermatology centers. All children seen for psoriasis during the one-year study were systematically included. The clinical features of the tongue and of psoriasis were recorded. Association with clinical aspects of psoriasis and comorbidities was evaluated. We then carried out a literature review to evaluate the prevalence of tongue involvement in children with psoriasis and its positive predictive value for psoriasis. A search was conducted in the PUBMED database using the following keywords: "child" and "psoriasis" and ("tongue" or "glossitis" or "migratory glossitis" or "benign migratory glossitis" or "geographic tongue" or "fissured tongue").
RESULTS
7.7% of the 313 children with psoriasis had tongue involvement. The clinical aspects were geographic tongue (4.2%), fissured tongue (2.8%) and both (0.64%). There was no association between tongue involvement and the clinical characteristics of the children. Two hundred and ninety-five articles were referenced and 3 were analysed. Psoriasis is very rare in cases of tongue abnormalities.
CONCLUSION
The prevalence of tongue involvement was 7.7% in children with psoriasis. No clinical or epidemiological association was shown. Tongue involvement does not modify the management of psoriasis. In the literature review it was not possible to evaluate either the prevalence of tongue involvement in psoriasis or the positive predictive value thereof.
Topics: Child; Child, Preschool; Comorbidity; Cross-Sectional Studies; Female; France; Glossitis, Benign Migratory; Humans; Male; Pediatric Obesity; Prevalence; Psoriasis; Risk Factors; Tongue Diseases; Tongue, Fissured
PubMed: 29773283
DOI: 10.1016/j.annder.2018.04.003