A Patient with 22q11.2 Deletion Syndrome: Case Report

22q11 deletion is one of the most frequently encountered genetic syndromes. The phenotypic spectrum shows a wide variability. We report a boy who presented at age 11.9 years with seizures due to hypocalcemia as a result of hypoparathyroidism. FISH analysis revealed a heterozygote deletion at 22q11.2. Positive findings for the syndrome were delayed speech development due to velofacial dysfunction, recurrent croup attacks in early childhood due to latent hypocalcemia and mild dysmorphic features. The findings of this patient indicate that 22q11 deletion syndrome may present with a wide spectrum of clinical findings and that this diagnosis needs to be considered even in patients of older ages presenting with hypocalcemia.     

Immune and Genetic Features of the Chromosome 22q11.2 Deletion (DiGeorge Syndrome)

Purpose of Review

This review provides an update on the progress in identifying the range of immunological dysfunction seen in DiGeorge syndrome and on more recent diagnostic and treatment approaches.

Recent Findings

Clinically, the associated thymic hypoplasia/aplasia is well known and can have profound effects on T cell function. Further, the humoral arm of the immune system can be affected, with hypogammaglobulinemia and poor vaccine-specific antibody response. Additionally, genetic testing utilizing chromosomal microarray demonstrates a small but significant number of 22q11 deletions that are not detectable by standard FISH testing. The recent addition of a TREC assay to newborn screening can identify a subset of infants whose severe immune defects may result from 22q11 deletion. This initial presentation now also places the immunologist in the role of “first responder” with regard to diagnosis and management of these patients.

Summary

DiGeorge syndrome reflects a clinical phenotype now recognized by its underlying genetic diagnosis, chromosome 22q11.2 deletion syndrome, which is associated with multisystem involvement and variable immune defects among patients. Updated genetic and molecular techniques now allow for earlier identification of immune defects and confirmatory diagnoses, in this disorder with life-long clinical issues.

     

Rheumatoid Syndrome Associated with Lung Interstitial Disorder in a Dental Technician Exposed to Ceramic Silica Dust. A Case Report and Critical Literature Review

Exposure to silica minerals is associated with silicosis and autoimmune disorders, especially systemic scleroderma. Evidence of this association has been increasingly reported in the last decade. The aim of this paper is to discuss, on the basis of a literature review, the case of a 28-year-old female dental technician who suffered from episodes of weakness, arthralgia, pain, swelling and stiffness of the fingers, dyspnoea with cough, a positive Waaler–Rose reaction, increased rheumatoid factor and normal ESR. She was a non-smoker. A rheumatoid syndrome with lung interstitial disorder, associated with silica exposure from dental ceramic products, was diagnosed. The patient had the HLA-A2-A31, HLA-B51-B18 and HLA-DR3-DR11 haplotypes, some of which are associated with autoimmune disease susceptibility. A 6-month follow-up, with adequate protection and without treatment, showed disappearance of the symptomatology and negative tests for Waaler–Rose reaction and rheumatoid factor. Exposure to silica should, therefore, be sought in the history of any patient with autoimmune or lupus-like syndrome and pulmonary changes. Symptoms associated with silica dust exposure from dental ceramic products should be recognised as being due potentially to an occupational disease, and dental technicians should be protected as workers at risk. Received: 6 March 2001 / Accepted: 6 August 2001     

Interstitial Lung Disease in a Child with Antisynthetase Syndrome

Introduction

Antisynthetase Syndrome is associated with interstitial lung disease in adult patients, but this has not been described in children.

Materials and methods

A 13-year-old with interstitial lung disease due to Antisynthetase Syndrome and pulmonary arterial hypertension underwent emergent bilateral lung transplantation after a rapid clinical decline.

Conclusion

We present the clinical, radiographic, and histological findings of a child with interstitial lung disease due to Antisynthetase Syndrome.     

Congenital Heart Disease as a Warning Sign for the Diagnosis of the 22q11.2 Deletion

Background

To alert for the diagnosis of the 22q11.2 deletion syndrome (22q11.2DS) in patients with congenital heart disease (CHD).

Objective

To describe the main CHDs, as well as phenotypic, metabolic and immunological findings in a series of 60 patients diagnosed with 22q11.2DS.

Methods

The study included 60 patients with 22q11.2DS evaluated between 2007 and 2013 (M:F=1.3, age range 14 days to 20 years and 3 months) at a pediatric reference center for primary immunodeficiencies. The diagnosis was established by detection of the 22q11.2 microdeletion using FISH (n = 18) and/or MLPA (n = 42), in association with clinical and laboratory information. Associated CHDs, progression of phenotypic facial features, hypocalcemia and immunological changes were analyzed.

Results

CHDs were detected in 77% of the patients and the most frequent type was tetralogy of Fallot (38.3%). Surgical correction of CHD was performed in 34 patients. Craniofacial dysmorphisms were detected in 41 patients: elongated face (60%) and/or elongated nose (53.3%), narrow palpebral fissure (50%), dysplastic, overfolded ears (48.3%), thin lips (41.6%), elongated fingers (38.3%) and short stature (36.6%). Hypocalcemia was detected in 64.2% and decreased parathyroid hormone (PTH) level in 25.9%. Decrease in total lymphocytes, CD4 and CD8 counts were present in 40%, 53.3% and 33.3%, respectively. Hypogammaglobulinemia was detected in one patient and decreased concentrations of immunoglobulin M (IgM) in two other patients.

Conclusion

Suspicion for 22q11.2DS should be raised in all patients with CHD associated with hypocalcemia and/or facial dysmorphisms, considering that many of these changes may evolve with age. The 22q11.2 microdeletion should be confirmed by molecular testing in all patients.     

Hodgkin's Disease in Sarcoidosis: A Case Report and a Review of the Literature

ABSTRACT. A patient with Hodgkin's disease preceded by sarcoidosis is presented and the difficulties introduced by the lack of specificity for the sarcoid-like granulomas to differentiate between the dual pathology are discussed. A review of the literature disclosed 9 similar case reports. It is suggested that the finding of non-caseating epithelioid cell granulomas in relatively old patients with lymphadenopathy, systemic symptoms and absolute neutrophil leucocytosis could be warning signals of the appearance of Hodgkin's disease.     

脑出血合并重症格林-巴利综合征一例报道并文献复习

格林-巴利综合征(GBS)是一种免疫介导的周围神经病,常累及脑神经。脑出血是脑卒中最严重的亚型之一,每年发病近200万人,但脑出血后合并GBS极为罕见。因此本文主要分析1例脑出血合并重症GBS的临床资料,并结合既往文献探讨脑出血合并重症GBS患者的临床特点、发病机制、诊断、治疗及预后,以提高临床医生对脑出血合并重症GBS的认识。     

Thoracolumbar Scoliosis in a Patient With Proteus Syndrome: A Case Report and Literature Review

The Proteus syndrome (PS) is a complex and rare congenital hamartomatous condition with a wide range of malformations. Little is reported about spinal deformity associated with this syndrome.This study presents a case of scoliosis occurring in the setting of PS and explores the possible mechanisms between the 2 diseases.The patient is a 17-year-old Chinese female with scoliosis and hemihypertrophy of the right upper and lower extremity as well as exostosis of the right lower leg joint including the hip, knee, ankle, and toes. These manifestations were suggestive of PS. She underwent a posterior correction at thoracic 2-lumbar 4 (T5–L4) levels, using the Moss-SI spinal system. At 3-month follow-ups, the patient was clinically pain free and well balanced. Plain radiographs showed solid spine fusion with no loss of deformity correction.The severity of scoliosis in PS is progressively aggravated and the correction of the extensive spinal deformities is generally difficult. Therefore, early diagnosis is required for adequate interdisciplinary treatment.     

Case Report: Fulminant Wilsonian Hepatitis Unmasked by Disease Progression Report of a Case and Review of the Literature

Among various hepatic manifestations of Wilson's disease, fulminant hepatic failure is the most uncommon entity and requires a detailed clinicopathological analysis for correct diagnosis. Left unrecognized and without proper therapy, in time the disease rapidly progresses to death. We describe a 24-year-old woman who died within five weeks of the onset of Wilson's disease, which presented with a dramatic course. Discriminating features of the disease are discussed with regard to the literature.     

Dilated Cardiomyopathy Revealing Cushing Disease: A Case Report and Literature Review

Cardiovascular impairments are frequent in Cushing''s syndrome and the hypercortisolism can result in cardiac structural and functional changes that lead in rare cases to dilated cardiomyopathy (DCM). Such cardiac impairment may be reversible in response to a eucortisolaemic state.A 43-year-old man with a medical past of hypertension and history of smoking presented to the emergency department with global heart failure. Coronary angiography showed a significant stenosis of a marginal branch and cardiac MRI revealed a nonischemic DCM. The left ventricular ejection fraction (LVEF) was estimated as 28% to 30%. Clinicobiological features and pituitary imaging pointed toward Cushing''s disease and administration of adrenolytic drugs (metyrapone and ketoconazole) was initiated. Despite the normalization of cortisol which had been achieved 2 months later, the patient presented an acute heart failure. A massive mitral regurgitation secondary to posterior papillary muscle rupture was diagnosed as a complication of the occlusion of the marginal branch. After 6 months of optimal pharmacological treatment for systolic heart failure, as well as treatment with inhibitors of steroidogenesis, there was no improvement of LVEF. The percutaneous mitral valve was therefore repaired and a defibrillator implanted. The severity of heart failure contraindicated pituitary surgery and the patient was instead treated by stereotaxic radiotherapy.This is the first case reporting a Cushing''s syndrome DCM without improvement of LVEF despite normalization of serum cortisol levels.     

Osimertinib for Lung Squamous Cell Carcinoma: A Case Report and Literature Review

The efficacy of epidermal growth factor receptor tyrosine kinase inhibitors (EGFR-TKIs) in lung squamous cell carcinoma is said to be low. Thus far, only four cases of osimertinib in lung squamous cell carcinoma have been published. We experienced a case of EGFR mutant lung squamous cell carcinoma in which fifth-line treatment with osimertinib was effective after T790M EGFR mutation turned positive. Osimertinib was resumed after sixth-line chemotherapy was ineffective, showing efficacy again. Osimertinib may be a promising treatment option for EGFR mutant lung squamous cell carcinoma. This is the first report to show its effect in a case of rechallenge after intervening chemotherapy. It may therefore be important to evaluate EGFR in never-smoker lung squamous cell carcinoma patients.     

Caroli's Syndrome in a Post Renal Transplant Patient: Case Report and Review of the Literature

Caroli''s syndrome is characterized by bile duct ectasia in association with hepatic fibrosis. It is usually transmitted in an autosomal recessive fashion and has been well documented to be associated with autosomal recessive polycystic kidney disease and occasionally with autosomal dominant polycystic kidney disease. However, there has been only few case reports published with Caroli''s syndrome diagnosed postrenal transplantation.     

Scoliosis in a Patient With Gilbert Syndrome: A Case Report and Review of the Literature

Gilbert syndrome (GS) is mainly characterized by intermittent unconjugated hyperbilirubinemia in the absence of hepatocellular disease or hemolysis. Little data are available on operative outcomes in GS patients with spinal deformity surgery.This study has presented a case of GS occurring in the patient with scoliosis.The patient was a 30-year-old female with scoliosis and GS. She was taken a correction form Thoracic 2 to Lumbar 1) levels by using the USS-II spinal system. At 2 years follow-up, the patient was well balanced and pain free. Plain radiographs demonstrated spine solid fusion without correction loss.Although complex scoliosis surgery can be performed safely in these patients with GS, careful perioperative managements including liver function and coagulation function are required.     

Locked-in Syndrome Due to Meningovascular Syphilis: A Case Report and Literature Review

We herein report a 46-year-old man presenting with locked-in syndrome secondary to meningovascular syphilis. Brain magnetic resonance imaging (MRI) demonstrated multiple acute infarctions in the left ventromedial pons, right basis pontis, and left basal ganglia. His locked-in syndrome was hypothesized to have been caused by thrombosis of the small paramedian branches of the basilar artery due to syphilitic arteritis. This is a unique case of bilateral ventromedial pontine infarction caused by meningovascular syphilis that presented as locked-in syndrome. Meningovascular syphilis should be included in the differential diagnosis of uncommon stroke, particularly in young men.     

Medical Therapy for Eisenmenger Syndrome: A Case Report and Review of Literature

Eisenmenger syndrome (ES) is defined as the process in which a long-standing left-to-right cardiac shunt caused by a congenital heart defect is eventually reversed into a cyanotic right-to-left shunt. It is crucial to recognize this grave pathology at the earliest because once it develops, treatment by medical or surgical means becomes even more challenging. In past decades, various therapeutic options have been developed that address the specific pathophysiological aspects of the disease and have shown to improve functional capacity and quality of life. There are three major therapeutic pathways in pulmonary hypertension treatment - endothelin receptor antagonists, phosphodiesterase type-5 inhibitors, and prostacyclin derivatives. These therapies not only improve hemodynamic parameters and exercise capacity but they also improve prognosis with various form of Pulmonary hypertension including ES. We report a case of a 35-year-old female of ostium secundum atrial septal defect with ES, started on upfront combination therapy of ambrisentan and tadalafil who demonstrated marked improvement after 3 months of medical therapy.