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1.
Medicine (Baltimore) ; 100(14): e25455, 2021 Apr 09.
Artigo em Inglês | MEDLINE | ID: mdl-33832154

RESUMO

RATIONALE: An impacted foreign body (FB) in the larynx of an adult is a rare but potentially life-threatening occurrence. Patients with Down's syndrome (DS) are vulnerable to airway FB. However, the anesthesia for FB removal can be challenging. This report describes a case in which a FB was impacted between the vestibular folds in an adult with DS, congenital heart disease, and a difficult airway. PATIENT CONCERNS: A 41-year-old woman swallowed a piece of sharp-tipped wooden skewer presented with a sudden onset of aphonia, dysphagia, and an acute sore throat without respiratory difficulty. The patient had DS, congenital heart disease, pulmonary arterial hypertension, and severe obstructive sleep apnea-hypopnea syndrome. The airway evaluation indicated that ventilation and intubation would be difficult due to retrognathia, macroglossia, adenotonsillar hypertrophy, and Mallampati's classification III. DIAGNOSIS: The clinical symptoms and laboratory examination confirmed FB penetrated between the vestibular folds. INTERVENTIONS: After careful multidisciplinary preoperative assessment and preparation, the FB was removed successfully by direct laryngoscopy under moderate sedation and spontaneous ventilation, with the application of 1% lidocaine as topical anesthesia. OUTCOMES: The laryngeal FB was removed successfully without any complications. And the patient was discharged home the next day. LESSONS: This case report shows the importance of anesthetic depth for laryngeal FB removal. The use of moderate sedation (allowing spontaneous ventilation) and adequate analgesia combined with local anesthesia enabled the patient to withstand the stress of direct laryngoscopy. Appropriate assessment, careful preparation, and multidisciplinary collaboration yielded the smooth removal of a laryngeal FB in an adult with DS.

2.
Ital J Pediatr ; 47(1): 81, 2021 Mar 31.
Artigo em Inglês | MEDLINE | ID: mdl-33789733

RESUMO

BACKGROUND: De novo pathogenic variants in the DDX3X gene are reported to account for 1-3% of unexplained intellectual disability (ID) in females, leading to the rare disease known as DDX3X syndrome (MRXSSB, OMIM #300958). Besides ID, these patients manifest a variable clinical presentation, which includes neurological and behavioral defects, and abnormal brain MRIs. CASE PRESENTATION: We report a 10-year-old girl affected by delayed psychomotor development, delayed myelination, and polymicrogyria (PMG). We identified a novel de novo missense mutation in the DDX3X gene (c.625C > G) by whole exome sequencing (WES). The DDX3X gene encodes a DEAD-box ATP-dependent RNA-helicase broadly implicated in gene expression through regulation of mRNA metabolism. The identified mutation is located just upstream the helicase domain and is suggested to impair the protein activity, thus resulting in the altered translation of DDX3X-dependent mRNAs. The proband, presenting with the typical PMG phenotype related to the syndrome, does not show other clinical signs frequently reported in presence of missense DDX3X mutations that are associated with a most severe clinical presentation. In addition, she has brachycephaly, never described in female DDX3X patients, and macroglossia, that has never been associated with the syndrome. CONCLUSIONS: This case expands the knowledge of DDX3X pathogenic variants and the associated DDX3X syndrome phenotypic spectrum.

3.
Animals (Basel) ; 11(3)2021 Mar 02.
Artigo em Inglês | MEDLINE | ID: mdl-33801521

RESUMO

Relative macroglossia has been identified in brachycephalic compared to mesaticephalic dogs. This study assessed the tongue volume comparing three common brachycephalic breeds, including 30 French bulldogs, 30 pugs, and 15 English bulldogs. Computed tomography scans of intubated dogs with the hard palate suspended were examined for total tongue volume and cross-sectional areas (CSAs) of the tongue, oropharynx, soft palate, and nasopharyngeal airways at three levels: 1, caudal tip of the hard palate; 2, caudal tip of the hamulus; 3 cranial to the basihyoid bone. Tongue volume normalized to bodyweight, was significantly higher in English and French bulldogs than in pugs. Normalized to skull length, CSA of the tongue was smaller in pugs than in French and English bulldogs. At level 3, French bulldogs had larger oropharyngeal CSA than English bulldogs and pugs. Soft palate CSA was the largest in English bulldogs at level 3. At levels 1 and 2, soft palate and nasopharyngeal CSA was the smallest in pugs. At level 3, French bulldogs had higher total airway/soft tissue ratios than pugs. The smaller tongue volume in pugs questions the accuracy of the term macroglossia in this breed and these findings should be considered if surgical correction is sought.

4.
BMJ Case Rep ; 14(4)2021 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-33795269

RESUMO

A 69-year-old woman presented with an 18-month history of recurrent bruising of the eyelids. She was otherwise asymptomatic and systems review was unremarkable. On examination, she had peri-orbital purpura and waxy papules at the inner canthus of both eyes. Macroglossia was also noted. Subcutaneous abdominal biopsy identified amorphous material in the dermis that stained positive for Congo red, with apple-green birefringence seen under polarised microscopy. Immunohistochemistry demonstrated antibodies against lambda light chains. Bone marrow biopsy identified further deposits of immunoglobulin light chain amyloid and a clonal infiltrate with 10%-20% plasma cells, confirming amyloidosis secondary to multiple myeloma. Iodine-123-labelled serum amyloid protein scintigraphy showed no abnormal uptake, thereby excluding significant amyloid deposits in the liver, spleen or kidneys. Cardiac MRI was consistent with early amyloid infiltration. We highlight the importance of dermatological manifestations in amyloidosis, to allow for early diagnosis, potentially limiting end organ involvement.

5.
Prenat Diagn ; 2021 Mar 28.
Artigo em Inglês | MEDLINE | ID: mdl-33778984

RESUMO

OBJECTIVE: To report our experience with targeted scans of the fetal pancreas. METHODS: Targeted scans were performed in 16 cases referred for anatomical or genetic conditions associated with structural pancreatic malformations. RESULTS: Four fetuses were evaluated for nephromegaly and macroglossia. In three of them, the pancreas circumference was >90th percentile. Genetic testing revealed Beckwith-Wiedemann syndrome. In the fourth case, the pancreas circumference was normal; exome sequencing revealed two heterozygous ETFDH gene mutations consistent with glutaric acidemia type II. In a case referred for non-visualization of the gallbladder, the fetal pancreas was not visualized and genetic analysis revealed a mutation in the ONECUT1 gene encoding for HNF6. Targeted scan for heterotaxia revealed three cases with variable degrees of agenesis of the pancreas, one case with a normally structured right sided pancreas and one case with a normal pancreas. Cases referred following a genetic diagnosis included a case of maternal nesidioblastosis with an extremely large fetal pancreas; and five fetuses diagnosed with a TCF2 deletion all with a normal pancreas. CONCLUSIONS: Prenatal assessment of the fetal pancreas may be a significant factor in prenatal diagnosis and counselling in cases presenting with anatomical and genetic conditions reported post-natally to be associated with pancreatic structural and functional abnormalities.

6.
Actas Dermosifiliogr ; 2021 Feb 27.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-33652010

RESUMO

BACKGROUND: Coronavirus disease 19 (COVID-19) has many manifestations, including respiratory, thrombotic, neurologic, digestive, and cutaneous ones. Cutaneous manifestations have been classified into 5 clinical patterns: acro-ischemic (pseudo-chilblain), vesicular, urticarial, maculopapular, and livedoid. Oral manifestations have also been reported, but much less frequently. PATIENTS AND METHODS: We performed a cross-sectional study in which we examined the oral mucosa of 666 patients with COVID-19 at the IFEMA field hospital in Madrid in April 2020. RESULTS: Seventy-eight patients (11.7%) had changes involving the oral mucosa. The most common were transient anterior U-shaped lingual papillitis (11.5%) accompanied or not by tongue swelling (6.6%), aphthous stomatitis (6.9%), a burning sensation in the mouth (5.3%), mucositis (3.9%), glossitis with patchy depapillation (3.9%), white tongue (1.6%), and enanthema (0.5%). Most of the patients also reported taste disturbances. CONCLUSION: COVID-19 also manifests in the oral cavity. The most common manifestations are transient U-shaped lingual papillitis, glossitis with patchy depapillation, and burning mouth syndrome. Mucositis with or without aphthous ulcers or enanthema may also be observed. Any these findings may be key clues to a diagnosis of COVID-19.

7.
J Med Case Rep ; 15(1): 114, 2021 Mar 10.
Artigo em Inglês | MEDLINE | ID: mdl-33750440

RESUMO

BACKGROUND: Bilateral congenital diaphragmatic hernia (CDH) is very rare. A few studies have reported the pathogenic role of 5p in CDH. CASE PRESENTATION: A 23-year-old primigravida Japanese woman was referred for the following abnormal findings at 33 weeks of gestation: polyhydramnios, macroglossia, talipes equinovarus, and levocardia. A marker chromosome was detected by amniocentesis. Fluorescence in situ hybridization with whole chromosome paint 5 and nucleolus organizer region probes confirmed its origin from chromosome 5 and an acrocentric chromosome. The karyotype of the fetus was diagnosed as 47, XY, +mar. ish +mar(WCP5+). At 39 + 5 weeks, a 2462 g male infant was delivered, with a specific facial configuration. Bilateral CDH, hypoplasia of the corpus callosum, atrial septal defect, and hypothyroidism were also detected in the baby. The karyotype of the peripheral blood was consistent with that of the amniocentesis. CONCLUSION: Genes coded on 5p might be associated with the pathogenesis of CDH; however, further investigation is required.

8.
Am J Med Genet A ; 2021 Mar 11.
Artigo em Inglês | MEDLINE | ID: mdl-33704912

RESUMO

Beckwith-Wiedemann syndrome (BWS) is a genomic imprinting disorder, characterized by macroglossia, abdominal wall defects, lateralized overgrowth, and predisposition to embryonal tumors. It is caused by the defect of imprinted genes on chromosome 11p15.5, regulated by imprinting control (IC) domains, IC1, and IC2. Rarely, CDKN1C and chromosomal changes can be detected. The aim of this study is to retrospectively evaluate 55 patients with BWS using the new diagnostic criteria developed by the BWS consensus, and to investigate (epi)genetic changes and follow-up findings in classic and atypical phenotypes. Loss of methylation in IC2 region (IC2-LoM), 11p15.5 paternal uniparental disomy (pUPD11), and methylation gain in IC1 region (IC1-GoM) are detected in 31, eight, and five patients, respectively. Eleven patients have had no molecular defects. Thirty-five patients are classified as classical and 20 as atypical phenotype. Patients with classical phenotype are more frequent in the IC2-LoM (25/31), while patients with atypical phenotype are common in the pUPD11 group (5/8). Malignant tumors have developed in six patients (10.9%); three of these patients have IC1-GoM, two pUPD11, one IC2-LoM genotype, and four an atypical phenotype. We observed that the face was round in the infantile period and elongated as the child grew-up, developing prognathism and becoming asymmetrical if hemi-macroglossia was present in the classical phenotype. These findings were mild in the atypical phenotype. These results support the importance of using the new diagnostic criteria to facilitate the diagnosis of patients with atypical phenotype who have higher tumors risk. This study also provides important information about facial gestalt.

9.
Prenat Diagn ; 2021 Mar 09.
Artigo em Inglês | MEDLINE | ID: mdl-33687072

RESUMO

OBJECTIVE: Describe the prevalence, perinatal and long-term outcomes of Beckwith-Wiedemann syndrome (BWS) among prenatally detected omphaloceles. METHODS: All prenatally diagnosed omphaloceles from 2010 to 2015 within a single tertiary care centre were identified. An echocardiogram and detailed fetal ultrasound were performed, and amniocentesis was offered with karyotype/microarray analysis and BWS molecular testing. Perinatal, neonatal, and long-term outcomes were retrieved for BWS cases. RESULTS: Among 92 omphaloceles, 62 had additional anomalies. Abnormal karyotypes were identified in 23/62 (37%) non-isolated and 2/30 (7%) isolated cases. One BWS case (5%) was identified among non-isolated omphaloceles and six BWS cases (37.5%) were identified among isolated omphaloceles after exclusion of aneuploidy. Among 19 BWS cases, 21% were conceived by ART. All omphaloceles underwent primary closure. Prenatally, macrosomia and polyhydramnios were seen in 42%. Macroglossia and nephromegaly were more commonly detected postnatally. Preterm birth occurred in 10/19 (53%) cases and cesarean deliveries were performed in 7/19 (40%) cases. Overall mortality was 20% (4/19). Embryonal tumors were diagnosed in 2/16 (12.5%) children, and neurodevelopmental outcomes were normal in 9/12 (75%) survivors. CONCLUSIONS: After excluding aneuploidy, BWS was identified in 37.5% and 5% of isolated and non-isolated omphaloceles, respectively. Omphaloceles were small-moderate size with good long-term surgical and neurodevelopmental outcomes when isolated.

10.
Am J Ther ; 28(2): e265-e266, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-33687030
11.
Eur J Endocrinol ; 184(4): 575-585, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33606663

RESUMO

Objective: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. Design: Retrospective analysis of the Italian data set of patients with TNDM. Methods: Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. Results: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. Conclusions: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.


Assuntos
Diabetes Mellitus , Doenças do Recém-Nascido , Conjuntos de Dados como Assunto , Diabetes Mellitus/classificação , Diabetes Mellitus/congênito , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Diabetes Mellitus/terapia , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/terapia , Itália , Masculino , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Indução de Remissão/métodos , Estudos Retrospectivos , Receptores Sulfonilureia/genética
12.
Int J Pediatr Otorhinolaryngol ; 143: 110649, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33640723

RESUMO

OBJECTIVES: Sotos syndrome 1 (SOTOS1; MIM:117550) is rare genetic disorder characterized by excessive physical growth before and after birth, distinctive facial features, a large and elongated head, and intellectual disability (Sotos et al., 1964; Tatton-Brown et al., 1993). This systematic review aims to determine otolaryngologic conditions and complications of SOTOS1 based on existing literature through a review of current and past case reports and studies regarding SOTOS1. METHODS: A systematic review of all published literature (1964-2020) describing otolaryngologic conditions and/or complications of patients with SOTOS1. Twenty journal articles met inclusion criteria. These articles included 160 patients diagnosed with SOTOS1. RESULTS: Of the 160 individuals with SOTOS1 included in this review, 22 (14%) were reported to have otologic conditions. 4 (3%) individuals were reported to have conditions involving the thyroid and parathyroid glands. 2 (1%) individuals were reported to have head & neck tumors. 39 (24%) individuals were reported to have congenital malformations or abnormalities of the head & neck. 47 (29%) individuals were reported to have feeding difficulties. 16% of individuals were reported to have other otolaryngologic conditions. CONCLUSIONS: Our review found multiple otolaryngologic conditions present in patients with SOTOS1, including hearing loss, otitis, hyperthyroidism, hypothyroidism, head & neck tumors, congenital malformations (high arched palate, cleft lip and palate, macroglossia), feeding difficulties, respiratory difficulties, and speech disorders. Additional studies should be conducted to further assess these associations.

13.
Anesthesiol Clin ; 39(1): 93-111, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33563388

RESUMO

The posterior cranial fossa with its complex anatomy houses key pathways regulating consciousness, autonomic functions, motor and sensory pathways, and cerebellar centers regulating balance and gait. The most common posterior fossa pathologies for which neurosurgical intervention may be necessary include cerebellopontine angle tumors, aneurysms, and metastatic lesions. The posterior cranial fossa can be accessed from variations of the supine, lateral, park-bench, prone, and sitting positions. Notable complications from positioning include venous air embolism, paradoxic air embolism, tension pneumocephalus, nerve injuries, quadriplegia, and macroglossia. An interdisciplinary approach with careful planning, discussion, and clinical management contributes to improved outcomes and reduced complications.

14.
Cleft Palate Craniofac J ; : 1055665621991739, 2021 Feb 08.
Artigo em Inglês | MEDLINE | ID: mdl-33550827

RESUMO

OBJECTIVE: Macroglossia is a characteristic feature of Beckwith-Wiedemann syndrome (BWS), commonly treated with reduction glossectomy to restore form and function. There exists no consensus on the perioperative management of these patients undergoing tongue reduction surgery, including anecdotal information regarding how long postoperative intubation should be maintained. The aim of this study is to evaluate the necessity of prolonged postoperative intubation in patients receiving tongue reduction surgery via the surgical and anesthetic management methods at our center. DESIGN: Retrospective case series. SETTING: Institutional care at Level I Children's Hospital. PARTICIPANTS: All children less than 18 years old with BWS and congenital macroglossia who underwent tongue reduction surgery over 5 consecutive years at our center (N = 24). INTERVENTIONS: Tongue reduction surgery via the "W" technique. MAIN OUTCOME MEASURES: Success of immediate postoperative extubation and related surgical complications. RESULTS: Immediate, uncomplicated postoperative extubation was successfully performed in all patients who received tongue reduction surgery for congenital macroglossia. CONCLUSIONS: Prolonged postoperative intubation for tongue reduction surgery may not be necessary as immediate, uncomplicated postoperative extubation was achieved in 100% of patients who received tongue reduction surgery at our center.

15.
Minerva Anestesiol ; 2021 Jan 12.
Artigo em Inglês | MEDLINE | ID: mdl-33432795

RESUMO

Children with symptoms of hypotonia (reduction of postural tone of lower limbs and trunk with or without changes in phasic tone) are frequently anaesthetized for diagnostic and therapeutic interventions. This review outlines the underlying causes and classifications, and the anaesthesiologic pre- and peri-operative management of hypotonic children. Hypotonia may have a large range of aetiologies that be categorized into central and/or peripheral hypotonia. A multidisciplinary approach towards the (differential) diagnosis of the underlying cause of the symptoms in cooperation with a paediatrician and/or paediatric neurologist is emphasized. Anaesthetic management involves the anticipation of an increased risk in difficult airway management because of macroglossia, reduced mouth opening, obesity and limited neck mobility, which increases with age. There are no specific restrictions towards the use of intravenous or inhalational anaesthetics. Short acting opioids and hypnotics, avoiding neuromuscular blockade, and locoregional techniques are preferred. Most patients are sensitive to the cardiac and depressive effects of anaesthetics and all dystrophic myopathies are considered at risk of malignant hyperthermia. Depolarizing neuromuscular blockers are contraindicated. The use of a peripheral nerve stimulator is recommended to detect the severity of muscle relaxation before extubating. Accurate control and management of IV fluids, electrolytes and temperature is mandatory. Adequate postoperative pain treatment is essential to limit stress and metabolic alteration. Preferably a locoregional technique is used to reduce the increased risk of respiratory depression. A multidisciplinary preoperative approach taking into account the differential diagnosis of the underlying disease of the floppy child is recommended.

16.
Eur J Med Genet ; 64(2): 104137, 2021 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-33421606

RESUMO

We describe a case of Beckwith-Wiedemann syndrome (BWS) demonstrating pre- and post-natal intra-familial variability. Our first encounter with the family occurred in the 1990s following the birth of 3 affected offspring. The first two pregnancies presented with exomphalos and elevated second trimester maternal serum alpha-fetoprotein (msAFP, 3.43 and 4.01 MOM, respectively) as well as elevated maternal human chorionic gonadotrophin (mhCG, 4.33 and 8.8 MOM, respectively). The diagnosis of BWS was confirmed postnatally in both cases. The third ongoing pregnancy presented only with elevated mhCG (7.09 MOM) and no malformation. Nonetheless BWS was suspected. The diagnosis was confirmed postnatally with clinical manifestations including macroglossia and cleft palate. Two affected female siblings were also diagnosed with Mullerian agenesis in adulthood. Suspecting a common genetic etiology, sequencing of the CDKN1C gene revealed a maternally inherited, likely pathogenic variant (NM_000076.2: c.367_385del; p.(Ala123Serfs*143)) causative of BWS. Chromosomal microarray and whole exome sequencing did not reveal any other pathogenic variant that would explain the Mullerian agenesis. One of the affected females underwent successful preimplantation genetic testing (PGT) with a surrogate and gave birth to a healthy female. To the best of our knowledge, this is the first report of Mullerian agenesis as a possible rare expansion of the BWS phenotype. In addition, this case highlights the potential role of abnormal second trimester biochemical markers (msAFP, mHCG) as possible indicators of BWS, especially in familial cases.

17.
Genes (Basel) ; 12(2)2021 Jan 27.
Artigo em Inglês | MEDLINE | ID: mdl-33513760

RESUMO

Epigenetic alterations at imprinted genes on different chromosomes have been linked to several imprinting disorders (IDs) such as Beckwith-Wiedemann syndrome (BWS) and pseudohypoparathyroidism type 1b (PHP1b). Here, we present a male patient with these two distinct IDs caused by two independent mechanisms-loss of methylation (LOM) at chromosome 11p15.5 associated with multi-locus imprinting disturbances (MLID and paternal uniparental disomy of chromosome 20 (patUPD20). A clinical diagnosis of BWS was made based on the clinical features of macrosomia, macroglossia, and umbilical hernia. The diagnosis of PHP1b was supported by the presence of reduced growth velocity and mild learning disability as well as hypocalcemia and hyperphosphatemia at 14 years of age. Molecular analyses, including genome-wide DNA methylation (Illumina 450k array), bisulfite pyrosequencing, single nucleotide polymorphism (SNP) array and microsatellite analysis, demonstrated loss of methylation (LOM) at IC2 on chromosome 11p15.5, and paternal isodisomy of the entire chromosome 20. In addition, imprinting disturbances were noted at the differentially methylated regions (DMRs) associated with DIRAS3 on chromosome 1 and PLAGL1 on chromosome 6. This is the first case report of PHP1b due to patUPD20 diagnosed in a BWS patient with LOM at IC2 demonstrating etiologic heterogeneity for multiple imprinting disorders in a single individual.

18.
BMJ Case Rep ; 14(1)2021 Jan 11.
Artigo em Inglês | MEDLINE | ID: mdl-33431468

RESUMO

A 50-year-old African American woman with hypertension, congestive heart failure, chronic kidney disease and prior cerebral vascular accident was transferred from an outside hospital after being found unresponsive and subsequently intubated for severe orolingual swelling. Imaging showed left thalamic haemorrhagic stroke, and the lingual swelling was clinically concerning for angio-oedema, with which a lingual biopsy was consistent. Work-up was negative for hereditary or acquired angio-oedema, and imaging was negative for structural causes. Of note, the patient had an episode of severe orolingual swelling 3 months prior to this presentation after suffering left thalamic haemorrhage which self-resolved after approximately 2 months. In both episodes lingual swelling predated receipt of tissue plasminogen activator and she had discontinued ACE inhibitor therapy since her first episode of tongue swelling. Despite medical and supportive management, tongue swelling progressed during admission and the decision was made to allow the patient's tongue swelling to self-resolve.


Assuntos
Doenças dos Gânglios da Base/complicações , Macroglossia/etiologia , Macroglossia/terapia , Traqueostomia , Doenças dos Gânglios da Base/diagnóstico , Doenças dos Gânglios da Base/terapia , Feminino , /terapia , Humanos , Macroglossia/diagnóstico por imagem , Pessoa de Meia-Idade , Recidiva
19.
Mod Rheumatol Case Rep ; : 1-19, 2020 Dec 03.
Artigo em Inglês | MEDLINE | ID: mdl-33269662

RESUMO

Amyloidosis is a condition characterized by extracellular tissue deposition of fibrils causing a wide range of clinical manifestations. This protein deposition can occur in any tissue, most commonly in the kidney, heart, skin, peripheral nervous system, and gastrointestinal tract. However, the deposition of amyloid fibrils in the synovium is seldom reported. Musculoskeletal manifestations are subtle, subclinical and rarely the patient presents with symptoms that resemble rheumatic diseases. Here, we describe a 55-year-old man with AL (amyloid light chain) amyloidosis who presented with inflammatory polyarthritis with significant morning stiffness, inflammatory low back pain, and painful thickened tongue. The patient had anemia, macroglossia with lateral scalloping of the tongue, papules, and plaques in the periocular, perioral and perinasal area, bilateral carpal tunnel syndrome, localized soft tissue swelling over the joints, restricted movement in different joints with flexion contractures in some joints. Rheumatoid factor and ACPA were negative and the X-ray of the sacroiliac joints was normal. We confirmed amyloidosis by biopsy of an affected skin lesion. In the urine, no Bence Jones protein was found and bone marrow study and x-ray of the skull were normal. Plasma immuno-electrophoresis and serum-free light chain (FLC) assay confirmed lambda light chain type monoclonal gammopathy. Take home message: Although AL amyloidosis is a rare condition, it should be considered while evaluating atypical symptoms in patients presenting with rheumatic complaints. A high index of suspicion is necessary for proper diagnosis as delay in diagnosis will yield a poorer treatment outcome.

20.
Fetal Pediatr Pathol ; : 1-7, 2020 Dec 27.
Artigo em Inglês | MEDLINE | ID: mdl-33356737

RESUMO

INTRODUCTION: Placental mesenchymal dysplasia (PMD) is often associated with Beckwith-Wiedemann syndrome. Case report: A 27-year-old woman with preeclampsia prematurely delivered twin girls. One side of the placenta was larger with numerous grape-like vesicles, histologically with large, cystic, stem villi with cisterns without syncytiotrophoblastic hyperplasia. This side showed mosaicism for chromosome 11 by FISH and hypomethylation at ICR2 by MLPA. The smaller side of the placenta was normal macroscopically, microscopically, and karyotypically. There was symmetric growth restriction, macroglossia and hypoglycemia of the girl corresponding to the abnormal placental side, and lesser symmetric growth restriction and mild hypoglycemia in the other girl. Conclusion: Localized placental mesenchymal dysplasia can occur in monochorionic diamniotic twin placenta with Beckwith-Wiedemann syndrome. Fetal affects may be asymmetric. PMD can be associated with mosaicism monosomy of chromosome 11.

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