OBJECTIVE: To analyze the clinical characteristics and genetic etiology of a child with Helsmoortel-Van der Aa syndrome (HVDAS). METHODS: Genetic testing was carried out for the child and his parents, and the clinical phenotypes and genetic variants of reported cases were summarized through literature review. RESULTS: The child has featured peculiar facies, accompanied by autism spectrum disorder, intellectual disability and motor retardation, and curving of the second toes, which was unreported previously. Genetic testing revealed that the child has harbored a heterozygous c.2157C>G (p.Tyr719*) variant of the ADNP gene, which was not found in either parent. Based on the guidelines of the American College of Medical Genetics and Genomics, this variant was rated as pathogenic. Among 80 HVDAS cases described in the literature, most had various degrees of behavioral abnormalities, intellectual disability, language retardation and motor retardation, with common features involving the nervous system, gastrointestinal system and eye. Variants of the ADNP gene mainly included frameshift variants and nonsense variants, with the hotspot variants including p.Tyr719*, p.Asn832lysfs*81 and p.Arg730*. CONCLUSION The clinical phenotype of the child is closely correlated with the heterozygous variant of the ADNP gene, which expanded the phenotypic spectrum of HVDAS. As HVDAS may involve multiple systems and have high phenotypic heterogeneity, genetic testing technology can facilitate accurately diagnose.
Abnormalities, Multiple/genetics* ; Autism Spectrum Disorder/genetics* ; Autistic Disorder/genetics* ; Homeodomain Proteins/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Rare Diseases/complications*

Adult ; Asian Continental Ancestry Group ; Biopsy, Needle ; Disease Progression ; Erythema ; complications ; physiopathology ; Female ; Foot Dermatoses ; complications ; diagnosis ; pathology ; Hand Dermatoses ; complications ; diagnosis ; pathology ; Humans ; Immunohistochemistry ; Pemphigus ; diagnosis ; pathology ; Prognosis ; Pruritus ; complications ; physiopathology ; Rare Diseases ; Singapore ; Syndrome

PURPOSE: Thyroid cancer is a rare disease in pediatric population, but its incidence rate is increasing. The aim of this report is to present a single institution experience of pediatric thyroid cancer and to identify clinical features, predisposing factors, and postoperative course of pediatric thyroid cancer. METHODS: We retrospectively reviewed 35 pediatric patients who underwent operation due to thyroid cancer at Seoul National University Children's Hospital between May 1997 and January 2017. The median follow-up period was 70 months (range, 5–238 months). RESULTS: The mean age at operation was 12.0±5.91 years and 27 patients were female. The underlying conditions in patients included history of chemoradiotherapy for previous other malignancies (n=4), hypothyroidism (n=3), history of chemotherapy (n=2), family history of thyroid cancer (n=1) and history of radiation therapy (n=1). The initial symptoms were palpable neck mass (n=21) and incidental findings (n=11). Total thyroidectomy (n=30) or unilateral lobectomy (n=5) were performed. There were 15 postoperative complications including transient hypocalcemia in 14 patients and Horner's syndrome in 1 patient. The most common pathologic cell type was papillary thyroid cancer (n=29). Extrathyroid extension and lymph node invasion were found in 25 patients and 27 patients, respectively. Thirteen patients showed multifocality. During follow-up period, 5 patients underwent additional operation because of tumor recurrence in lymph nodes. Lung metastasis was detected in 3 patients at the time of diagnosis and in 3 patients during follow-up period. The mortality rate was zero and mean disease-free survival was 83.7±47.9 months. CONCLUSION: Pediatric thyroid cancer has lower mortality rate and recurrence rate as seen in this study despite the advanced stage at diagnosis. A thorough follow-up of patients with an underlying condition such as history of chemoradiotherapy and understanding new pediatric guideline can be helpful to maximize patients' survival and prognosis.
Causality ; Chemoradiotherapy ; Diagnosis ; Disease-Free Survival ; Drug Therapy ; Female ; Follow-Up Studies ; Horner Syndrome ; Humans ; Hypocalcemia ; Hypothyroidism ; Incidence ; Incidental Findings ; Lung ; Lymph Nodes ; Mortality ; Neck ; Neoplasm Metastasis ; Pediatrics ; Postoperative Complications ; Prognosis ; Rare Diseases ; Recurrence ; Retrospective Studies ; Seoul ; Thyroid Gland* ; Thyroid Neoplasms* ; Thyroidectomy

No abstract available.
Chronic Disease ; Cryopyrin-Associated Periodic Syndromes/*complications/diagnosis ; Gonioscopy ; Humans ; *Intraocular Pressure ; Male ; Microscopy, Acoustic ; Middle Aged ; Ocular Hypertension/diagnosis/*etiology/physiopathology ; Rare Diseases

PURPOSE: Spontaneous pneumomediastinum (SPM) is a rare entity, with only a few cases reported, especially in adolescents. We aimed to analyze the clinical characteristics of SPM in adolescents and the diagnostic implications of computed tomography (CT) and esophagography therein. MATERIALS AND METHODS: This retrospective descriptive study was conducted as a review of medical records of 416 adolescents (10-18 years of age) with chest pain from March 2005 to June 2013. Information on clinical presentation, methods of diagnosis, hospital stay, and outcomes were collected and analyzed. RESULTS: Among adolescents complaining of chest pain, 11 patients had SPM (11/416, 2.64%). All patients presented with pleuritic chest pain, and 54.5% reported neck pain as the most common associated complaint. Clinical findings were nonspecific, and initial chest X-ray assessment was diagnostic only in three of 11 patients. However, reassessment of chest X-ray revealed diagnostic findings of SPM in five of the remaining eight patients. CT was diagnostic in all patients, while esophagography and echocardiogram were uninformative. Symptomatic improvement was noted within 2.45+/-1.2 hours (range, 0.5 to 4) after supportive care; mean hospital stay was 4.54+/-0.99 days (range, 2 to 6). No recurrence was observed. CONCLUSION: SPM is a rare disease that should be considered in adolescent patients with pleuritic chest pain. Careful reading of initial chest X-rays is important to avoiding further unnecessary investigations. SPM is self-limited and treatment is supportive; nevertheless, if there are no indications of esophageal rupture, urgent esophagography is not recommended.
Adolescent ; Analgesics/*therapeutic use ; Chest Pain/diagnosis/*etiology ; Child ; Female ; Follow-Up Studies ; Humans ; Length of Stay ; Male ; Mediastinal Emphysema/complications/*diagnosis/*therapy ; Medical Records ; *Oxygen Inhalation Therapy ; Rare Diseases ; Retrospective Studies ; Risk Factors ; Tomography, X-Ray Computed ; Treatment Outcome

Chronic invasive fungal sinusitis is a relatively rare disease that can span from months to years in its clinical course and is described to be more common in immunocompetent patients. Most cases of chronic invasive fungal sinusitis are due to the Aspergillus species and have been treated with a combination of surgery and antifungal agents. However, the incidence is increasing with frequent use of antibiotics, cytotoxic drugs, and systemic corticosteroids. We report a case of chronic invasive fungal sinusitis with orbital complication in the patient who underwent endoscopic sinus surgery for chronic rhinosinusitis. Although chronic invasive fungal sinusitis is relatively rare, it is important for otolaryngologists to be aware of its diagnosis and treatment.
Adrenal Cortex Hormones ; Antibiotics, Antineoplastic ; Antifungal Agents ; Aspergillosis ; Aspergillus ; Diagnosis ; Endoscopy ; Fungi ; Humans ; Incidence ; Orbit ; Postoperative Complications ; Rare Diseases ; Sinusitis*

Tuberous sclerosis complex (TSC) is a multisystem genetic disorder characterised by widespread hamartomas in organs such as the skin, brain, heart, lung, liver and kidney. Although associations of TSC with hamartomas, angiomyolipomas and fibromas have been reported, there has been no report of its association with malignant melanoma. Herein, we describe a 31-year-old man with malignant melanoma associated with TSC. The patient had a history of epilepsia, multiple hypomelanotic macules, periungual fibromas and multiple hepatic lesions. Malignant melanoma was diagnosed by hepatic biopsy. To the best of our knowledge, this is the first report of malignant melanoma coexisting with TSC in the literature. We also present and discuss the imaging findings, prognosis, underlying mechanisms and practical approaches in relation to the disease.
Adult ; Biopsy, Needle ; Follow-Up Studies ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; methods ; Male ; Melanoma ; complications ; diagnosis ; therapy ; Multimodal Imaging ; methods ; Positron-Emission Tomography ; methods ; Rare Diseases ; Risk Assessment ; Skin Neoplasms ; complications ; diagnosis ; therapy ; Tomography, X-Ray Computed ; methods ; Tuberous Sclerosis ; complications ; diagnosis

A 23-year-old man presented with abdominal pain after suffering blunt trauma caused by a seatbelt injury. His low platelet count of 137 × 10(9)/L was initially attributed to trauma and his underlying hypersplenism due to glucose-6-phosphate dehydrogenase (G6PD) deficiency. Despite conservative management, his platelet count remained persistently reduced even after his haemoglobin and clotting abnormalities were stabilised. After a week, follow-up imaging revealed an incidental finding of a pseudoaneurysm (measuring 9 mm × 8 mm × 10 mm) adjacent to a splenic laceration. The pseudoaneurysm was successfully closed via transcatheter glue embolisation; 20% of the spleen was also embolised. A week later, the platelet count normalised, and the patient was subsequently discharged. This case highlights the pitfalls in the detection of a delayed occurrence of splenic artery pseudoaneurysm after blunt injury via routine delayed phase computed tomography. While splenomegaly in G6PD may be a predisposing factor for injury, a low platelet count should arouse suspicion of internal haemorrhage rather than hypersplenism.
Abdominal Pain ; diagnosis ; etiology ; Accidents, Traffic ; Aneurysm, False ; diagnostic imaging ; etiology ; therapy ; Embolization, Therapeutic ; methods ; Follow-Up Studies ; Glucosephosphate Dehydrogenase Deficiency ; complications ; diagnosis ; Humans ; Injury Severity Score ; Male ; Rare Diseases ; Risk Assessment ; Seat Belts ; adverse effects ; Splenic Artery ; injuries ; Tomography, X-Ray Computed ; methods ; Treatment Outcome ; Wounds, Nonpenetrating ; complications ; diagnosis ; Young Adult

OBJECTIVETo analyze the clinical characteristics of plastic bronchitis associated with 2009 influenza A virus (H1N1) infection.

METHODA retrospective investigation of the clinical manifestation, bronchoscopy, and the histology of the cast, clinical course and outcome of 8 children with plastic bronchitis associated with influenza A virus (H1N1) infection during winter of 2009 and 2010 was performed.

RESULTAll 8 cases were boys, the range of age was 3 to 6 years. Five cases occurred in 2009 winter, accounting for 3.3% (5/150) of hospitalized children with influenza A (H1N1) infection; 3 cases occurred in 2010 winter, accounting for 15.8% (3/19) of hospitalized children with influenza A (H1N1) infection. Two patients had an underlying chronic disease, 1 had asthma, and the other had allergic rhinitis and atopic dermatitis. All the 8 cases had fever, cough and sputum; 2 had wheezing; 5 had respiratory distress. All 8 cases were diagnosed as influenza A virus (H1N1) infection complicated with pneumonia, of whom 5 patients had atelectasis, 2 had pneumothorax, 1 had pneumomediastinum, 1 had parapneumonic effusion, 2 patients were suspected of foreign body aspiration. Seven cases were admitted to an ICU, 5 patients developed respiratory failure, and 3 patients required mechanical ventilation. Flexible bronchoscopy and bronchial lavage was performed in all cases and showed bronchial cast. Histological examination of the bronchial cast revealed a fibrinous material containing large quantity of eosinophils, neutrophils, and lymphocytes in 7 patients, fibrinous material and necrotic material without inflammatory cells in 1 patient. After the bronchial cast was removed, all patients were improved greatly, no patients died.

CONCLUSIONPlastic bronchitis is a life-threatening complication associated with 2009 influenza A (H1N1) virus infection in children. In children with rapid and progressive respiratory distress with lung atelectasis or consolidation on chest radiograph, plastic bronchitis should be considered. Bronchoscopic extraction of casts should be carried out early.

Antiviral Agents ; administration & dosage ; therapeutic use ; Bronchitis ; complications ; diagnosis ; therapy ; virology ; Bronchoscopy ; Child ; Child, Preschool ; Foreign Bodies ; complications ; Glucocorticoids ; administration & dosage ; therapeutic use ; Humans ; Influenza A Virus, H1N1 Subtype ; Influenza, Human ; complications ; virology ; Intensive Care Units ; Male ; Pulmonary Atelectasis ; diagnosis ; therapy ; virology ; Rare Diseases ; Respiratory Insufficiency ; diagnosis ; therapy ; virology ; Retrospective Studies ; Tomography, X-Ray Computed ; Treatment Outcome

BACKGROUND: Tuberculous abscess of the chest wall is a very rare disease. Few articles have reported on it and those that have enrolled few patients. To determine the characteristics of this disease and to suggest an optimal treatment strategy, we reviewed patients treated by surgical management. MATERIALS AND METHODS: Between October 1981 and December 2009, 68 patients treated by surgical management for a tuberculous abscess of the chest wall were reviewed retrospectively. RESULTS: Of 33 men and 35 women, 31 patients had a current or previous history of tuberculosis. The main complaints were chest pain, a palpable mass, pus discharge, and coughing. A preoperative bacteriologic diagnosis was performed in 12 patients. Abscess excision was performed in 54 cases, abscess cavity excision and partial rib resection in 13, and abscess excision and partial sternum and clavicle excision in 1 case. Postoperative wound infection was noted in 16 patients and a secondary operation was performed in 1 patient. Recurrence occurred in 5 patients (7.35%). Reoperation with abscess excision and partial rib resection was performed in all of the 5 cases. CONCLUSION: Complete excision of the abscess and primary closure of the wound with obliteration of space would decrease postoperative complications. Anti-tuberculosis medication may reduce the chance of recurrence.
Abscess ; Chest Pain ; Clavicle ; Cough ; Female ; Humans ; Male ; Postoperative Complications ; Rare Diseases ; Recurrence ; Reoperation ; Ribs ; Sternum ; Suppuration ; Surgical Wound Infection ; Thoracic Wall ; Thorax ; Tuberculosis