Aggressive fibromatosis of the oral cavity in a 5 year old boy: a rare case report.
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ABSTRACT:
SUBMITTER: Nair KK
PROVIDER: S-EPMC5554660 | biostudies-other | 2017
REPOSITORIES: biostudies-other
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Project description:RationaleAggressive fibromatosis is a rare and locally infiltrative monoclonal fibroblastic proliferation with lack of metastatic potential. We describe a rare case of intra-abdominal aggressive fibromatosis on young female with hyperemesis.Patient concernsA 23-year-old female was admitted with hyperemesis and loss of weight.DiagnosesAccording to imaging findings and immunohistology findings, a diagnosis of intra-abdominal aggressive fibromatosis was formulated.OutcomesAfter the surgery, no evidence of local recurrence was noted during the 6 months of follow-up.LessonsAF may explain why pregnant women may have severe hyperemesis.
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Project description:BACKGROUND:Otodental syndrome is an exceptionally rare autosomal dominant condition characterized by a delayed eruption of posterior teeth, globodontia, lisping, and sensorineural hearing loss. In this case report, we reported a 3-year-old Chinese boy with the otodental syndrome. CASE PRESENTATION:A 3-year-old Chinese boy was referred to our hospital with complaint of no eruption of primary canines and molars. Three years follow-up showed lately erupted bulbous primary canines with hypoplastic enamel spot, globe-shaped primary molars and sensorineural hearing loss at 4 and a half-year-old age. We diagnosed otodental syndrome in the patient's mother with hearing loss at 16-year-old age. Gene sequencing and analysis of deafness-related genes GJB2, GJB3, SLC26A4, and mtDNA did not reveal any mutation or SNPs in the patient and his mother. CONCLUSIONS:This case report highlights the importance of detailed medical, dental, and family history examination, as well as multi-disciplinary teamwork for diagnosis and treatment of otodental syndrome.
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Project description:Introduction and importanceAnaplastic Large-cell Lymphoma (ALCL) is a rare but aggressive type of NHL that develop from mature post-thymic T-cells. ALCL constitutes approximately 2% of all lymphoid neoplasm. It is typically found among children and young adults, accounting for 10-15% of pediatric NHL, compared to 2% of adult NHL.Case presentationA 12-year-old Syrian boy was admitted to our hospital due to epistaxis, anorexia, weight loss and night sweats. The physical examination revealed preauricular, postauricular and submandibular lymphadenopathy. Pathological examination of the biopsy suggested Classical Hodgkin Lymphoma. Later on, Immunohistochemistry staining confirmed the diagnosis of ALK-negative Anaplastic Large Cell Lymphoma.Clinical discussionSystemic ALCL can be categorized into two major groups based on the expression of Anaplastic Lymphoma Kinase (ALK) protein: Systemic ALK + positive and Systemic ALK-negative. The majority of pediatric cases show an overexpression of (ALK), however, pediatric ALK-negative ALCL can occur in rare cases.ConclusionThe aim of this article is to report a rare case of pediatric ALK-negative anaplastic large cell lymphoma that developed a rapid & aggressive growth within a few months despite the chemotherapy treatment and unfortunately led to the patient's death.
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Project description:Introduction:Prinzmetal's angina is a very rare disease in children and adolescents. Adults' studies suggest that vasospastic angina is more common in patients with bronchial asthma than in the general population. Case presentation:A 16-year-old boy with a history of bronchial asthma was admitted to the hospital after successful resuscitation from asystole. On the day of admission, he had a severe left shoulder pain and developed cardiac arrest. He was complaining of left shoulder pain throughout the previous year. During his hospital stay, a second cardiac arrest took place with inferior ST elevation of the electrocardiography recorded after the second successful resuscitation. Diagnostic coronary angiography revealed multiple spasms throughout the coronary bed, which was completely resolved after intracoronary nitroglycerine administration. The patient was diagnosed Printzmetal's vasospasic angina, and the symptoms disappeared gradually with up-titration of a calcium channel blocker and a nitrate. Discussion:Previous studies have suggested that the pathogenesis of Prinzmetal's vasospastic angina may be similar to that of bronchial asthma, as we see in the presentation of this young patient.
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Project description:Background Hypercalcemic crisis caused by primary hyperparathyroidism (PHPT) in pediatric patients is very rare, and appropriate treatment approach for this condition has not been well demonstrated. Here, we report a case of PHPT-induced hypercalcemic crisis in a boy. Case Description An 11-year-old boy visited the clinic with abdominal pain and nausea that lasted for 3 months, but the cause of his symptoms could not be identified. As these symptoms worsened after 1 month, he was referred to a nearby hospital. The boy’s albumin-corrected serum calcium level was very high (14.3 mg/dL). Treatment was immediately started with the administration of normal saline, furosemide, and calcitonin to lower his serum calcium levels. Based on elevated intact-parathyroid hormone (i-PTH) (405 pg/mL) level and enlargement of the right superior parathyroid on diagnostic imaging, he was diagnosed with hypercalcemic crisis due to PHPT. As his albumin-corrected serum calcium level increased to 16.5 mg/dL and he could not take almost any foods due to severe nausea, he was transferred to our hospital and treated with pamidronate. Although his albumin-corrected serum calcium level decreased to 14.0 mg/dL, his symptoms did not improve completely. Therefore, 2 days after transfer to our hospital, he underwent emergency surgery to resect the enlarged right superior parathyroid gland. Fifteen minutes after removal of the enlarged parathyroid gland, the serum intact-PTH level decreased to 41.7 pg/mL. The histopathological diagnosis of the enlarged parathyroid gland was adenoma. The boy became asymptomatic, and his albumin-corrected serum calcium level was maintained within the normal limits for 6 months post operatively. Genetic testing performed after the surgery did not detect any pathogenic mutations in the MEN1 and CDC73 genes, and no genetic predisposition has been identified to date. Conclusions Emergency focused parathyroidectomy prior to genetic testing might be an appropriate strategy when the pediatric patient presents with a PHPT-induced hypercalcemic crisis.
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Project description:Pulmonary lymphangiectasia (PL) is a rare condition characterized by dilatation of the lymphatic vessels. Post-neonatal PL is usually associated with pleural effusion and should therefore be suspected in the presence of chylothorax. We describe a post-neonatal manifestation of PL in a 7-year-old boy presenting chylothorax. Radiological examinations included thorax X-ray, ultrasound, and computed tomography scans. After the failure of conservative management (maintenance of the chest tube, total parenteral nutrition, administration of somatostatin synthetic analogues) we performed a thoracoscopic massive ligation of the thoracic duct's collateral along with a lung biopsy. Histology was compatible with type 1 congenital pulmonary lymphangectasia. One month after surgery a thoracoscopic pleurodesis was required for persistent chylothorax. The boy is now doing well 1 year after surgery.
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Project description:BackgroundThe co-existence of two genetically distinct metabolic disorders in the same patient has rarely been reported. Phenylketonuria (PKU) is an inborn error of the metabolism resulting from a phenylalanine hydroxylase deficiency. Fabry disease (FD) is an X-linked lysosomal storage disorder due to a deficiency of the enzyme alpha-galactosidase A.Case presentationWe report a case of a 3 year- old boy affected by classic PKU and FD, both confirmed by molecular data. The FD was suspected at the age of 21 months on the presence of non-specific GI symptoms (severe abdominal pain and periodically appearance of not specific episodes of gastroenteritis) apparently non related to PKU.ConclusionThis is the first report of co-existence of FD and PKU, two different congenital inborn of metabolism and in consideration of the prevalence of each disease this chance association is a very unusual event. The co-existence of this diseases made very difficult the correct interpretation of clinical symptoms as lack of appetite, severe abdominal pain and non-specific gastroenteritis episodes. Furthermore, this case report helps to define the early clinical phenotype of FD.
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Project description:Keutel syndrome (KS) as a scarce autosomal recessive disorder is characterized by hearing loss, multiple peripheral pulmonary stenoses, abnormal cartilage calcification, and morphological defects including midface hypoplasia and brachytelephalangism. We herein describe a 5-year-old boy who was referred for the evaluation of incidentally auscultated heart murmurs. He had no obvious abnormalities at birth but suffered from recurrent episodes of infectious otitis media during infancy. Physical examination revealed facial abnormalities, such as a broad nasal bridge, a sloping forehead, maxillary hypoplasia, and brachytelephalangism. Chest radiography showed tracheobronchial tree calcification. Transthoracic echocardiography illustrated peripheral pulmonary artery stenosis, moderate tricuspid regurgitation, and pulmonary hypertension. Computed tomography angiography confirmed calcification and segmental stenosis in the peripheral pulmonary arteries. The patient was diagnosed with KS. Most of these patients have a good prognosis. During the follow-up of these patients and examinations, we should pay attention to their symptoms related to upper respiratory tract infections, the extent of hearing, and the possibility of tracheal and pulmonary artery stenosis development. KS is a disease with a good prognosis, and a careful initial examination of babies, including facial appearance and heart auscultation, may lead to the early diagnosis of this disease.
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Project description:Key clinical messageInfantile liver failure type 2 is described as repeated attacks of liver dysfunction with remission. This syndrome should be considered in the differential diagnosis of any child with symptoms of recurrent hepatic encephalopathy.AbstractInfantile liver failure syndrome 2 is described as recurrent attacks of liver dysfunction. ILFS2 should be included in the differential diagnosis of children with frequent and acute liver failure. We present a 2.5-year-old boy with clinical manifestation of acute liver failure. In past, he had two similar attacks.
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Project description:Introductionand importance Polyorchidism is defined as the presence of three testes or more. Approximately, there are about 200 cases of polyorchidism in the medical literature. In the past, surgical treatment was done but now with imaging studies, less aggressive approach is recommended.Here we present a case of 40-year-old man who was diagnosed incidentally with polyorchidism in the right hemiscrotum which is quite unusual in this age.Case presentationA 40-year-old man presented to the emergency department with a swelling and pain in the left hemiscrotum. In palpation, we noticed a scrotal mass in the right hemiscrotum. His parents had first noticed a scrotal mass when he was two years old and was incorrectly diagnosed as hydrocele by an unauthorized practitioner.In the left hemiscrotum, Doppler confirmed acute epididymitis diagnosis that was treated conservatively with antibiotics and NSAIDs. In the right hemiscrotum, MRI showed that the lump had separate epididymis and shared a common vas deferens with the right testis, which confirmed the diagnosis of supernumerary testis and the patient underwent a follow-up ultrasound after a month and after six months of his presentation.DiscussionTriorchidism is the most common type of polyorchidism. Polyorchidism is diagnosed incidentally hence it is asymptomatic. There are many types of Polyorchidism and tow classification have been described. When the patient is asymptomatic the concentrative treatment is recommended.ConclusionPolyorchidism is a rare congenital anomaly in the genitourinary tract. It is diagnosed incidentally. Ultrasound or MRI are used to diagnose polyorchidism cases.
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