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Berardinelli-Seip syndrome in a 6-year-old boy  [cached]
Babu Priya,Sharma Rakesh,Jayaseelan Elizabeth,Appachu Divya
Indian Journal of Dermatology, Venereology and Leprology , 2008,
Abstract: A 6-year-old boy presented with abnormal habitus since birth, delayed language development, history of frequent falls since 9 months, and fever since 1 week. He was found to have hyperandrogenic features, generalized paucity of fat, generalized muscular overdevelopment, and brownish pigmentation over the flexural creases. Skin biopsy demonstrated features suggestive of acanthosis nigricans with an absence of subcutaneous tissue. After further investigation, a diagnosis of Berardinelli-Seip syndrome with bilateral pneumonia and generalized tonic clonic seizures was made. Clinical features, histopathology, differential diagnosis, and prognosis of this rare disorder have been discussed.
Histiocytosis in a 7 year old boy, a diagnostic dilemma
FS Okpokowuruk, IN Umana, OA Adesina
Nigerian Journal of Paediatrics , 2013,
Abstract: Histiocytoses are a group of rare disorders which are characterized by the infiltration/accumulation of histiocytic cells in affected tissues. Their mode of clinical presentation varies greatly and can represent a diagnostic challenge in our environment where there is a paucity of diagnostic facilities. This report is on a 7 year old boy with probable Histiocytosis who initially presented with signs and symptoms suggestive of pulmonary tuberculosis. Difficulties in reaching a conclusive diagnosis of the type of histiocytosis coupled with financial limitations contributed to the eventual demise of this patient.
Primary linitis plastica of the rectosigmoid in a thirteen year old boy.  [cached]
Prasad S,Patankar T,Zakaria T,Patankar Z
Journal of Postgraduate Medicine , 1998,
Abstract: Childhood malignant neoplasms of the gut are extremely rare. The reported incidence of colorectal cancers in patients under 20 years of age is 1 in 10 million. The low index of suspicion for this tumour in children results in advanced disease at diagnosis and subsequently a poor prognosis. A rare case of a primary linitis plastica of the rectum occurring in a 13 year old boy is reported with review of pertinent literature.
Pulmonary medium vessel vasculitis in an 11 year old boy: Hughes Stovin syndrome as a variant of polyarteritis nodosa?
Willemien de Vries, Gerard H Koppelman, Marc TR Roofthooft, Hendrika Bootsma, Martha K Leijsma, Wineke Armbrust
Pediatric Rheumatology , 2011, DOI: 10.1186/1546-0096-9-19
Abstract: According to the EULAR/PRINTO/PReS consensus criteria vasculitis of childhood is classified as small, medium-sized or large vessel vasculitis, or 'other' [1]. In childhood, pulmonary involvement is most frequently observed in vasculitis which preferentially affects small vessels, such as Wegener's granulomatosis, microscopic polyangiitis and Churg-Strauss syndrome. Pulmonary involvement is seldomly observed in large and medium vessel vasculitis, such as Takayasu arteritis, Kawasaki disease and polyarteritis nodosa (PAN) [1-3]. An exception is Beh?et's disease (BD), in which the formation of pulmonary artery aneurysms occurs in 1-8% of adult BD patients. Similar rates have been found in pediatric case series [2,4-6].In this report we describe an eleven-year-old boy suffering from pulmonary medium sized vessel vasculitis, combined with dural venous sinus thrombosis. We highlight the difficulty in establishing a definite diagnosis in the context of current diagnostic criteria and discuss Hughes-Stovin syndrome (HSS) as a potential diagnosis. HSS is characterized by the combination of multiple bilateral pulmonary artery aneurysms and venous thrombosis, and has been suggested to be an incomplete variant of BD [5,7]. We will review pediatric cases of HSS from the literature and discuss the possibility that it is rather a variant of PAN with specific pulmonary involvement, based on its clinical manifestations in relation to current diagnostic guidelines and its therapeutic response.An 11-year-old boy was admitted to our hospital with cough, fatigue, and weight loss (~4 kg) of 4 months duration, and hemoptysis starting the day before admission. The past medical history was unremarkable. His mother was Spanish, his father Dutch. The family medical history was negative for autoinflammatory or autoimmune diseases.Clinical examination was unremarkable other than a pale appearance. No oral or genital ulcers were present. Laboratory examination revealed elevated inflammatory para
Omental infarction in an obese 10-year-old boy
Katerina Kambouri,Stefanos Gardikis,Alexandra Giatromanolaki,Aggelos Tsalkidis
Pediatric Reports , 2011, DOI: 10.4081/pr.2011.e22
Abstract: Primary omental infarction (POI) has a low incidence worldwide, with most cases occurring in adults. This condition is rarely considered in the differential diagnosis of acute abdominal pain in childhood. Herein, we present a case of omental infarction in an obese 10-year-old boy who presented with acute abdominal pain in the right lower abdomen. The ultrasound (US) examination did not reveal the appendix but showed secondary signs suggesting acute appendicitis. The child was thus operated on under the preoperative diagnosis of acute appendicitis but the intraoperative finding was omental infarct. Since the omental infarct as etiology of acute abdominal pain is uncommon, we highlight some of the possible etiologies and emphasize the importance of accurate diagnosis and appropriate treatment of omental infarction.
Chronic Calcific Pancreatitis in a 9-Year-Old Boy  [cached]
Debasish Das,Dev Prosad Paul,Kazi Sohel Iqbal
Journal of Enam Medical College , 2012, DOI: http://dx.doi.org/10.3329/jemc.v2i1.11929
Abstract: Chronic pancreatitis is defined as continuing inflammatory disease of pancreas, characterised by irreversible morphological changes leading to pancreatic insufficiency. Chronic pancreatic insufficiency without pancreatitis is also seen in children suffering from cystic fibrosis which is a disease with congenital enzyme deficiency. Mean age of chronic pancreatitis is about 40 years. We present a case of a 9-year-old boy who was diagnosed as a case of chronic calcific pancreatitis. He was admitted with the complaints of paraumbilical pain and vomiting and was found diabetic. Diagnosis was established by X-ray, USG and CT scan of abdomen and ERCP. He was treated surgically in the form of lateral pancreaticojejunostomy (Puestow’s procedure).
A Spinal Arteriovenous Fistula in a 3-Year Old Boy  [PDF]
Thomas E. M. Crijnen,Sandra van Gijlswijk,Jozef De Dooy,Maurits H. J. Voormolen,Dominique Robert,Philippe G. Jorens,Jose Ramet
Case Reports in Pediatrics , 2014, DOI: 10.1155/2014/696703
Abstract: We present a case of a 3-year-old boy with neurodegeneration. Family history reveals Rendu-Osler-Weber disease. Magnetic resonance imaging (MRI) of the spinal cord and spinal angiography showed a spinal arteriovenous fistula with venous aneurysm, causing compression of the lumbar spinal cord. Embolisation of the fistula was executed, resulting in clinical improvement. A week after discharge he was readmitted with neurologic regression. A second MRI scan revealed an intraspinal epidural haematoma and increase in size of the aneurysm with several new arterial feeders leading to it. Coiling of the aneurysm and fistulas was performed. Postoperative, the spinal oedema increased despite corticoids, causing more extensive paraplegia of the lower limbs and a deterioration of his mental state. A laminectomy was performed and the aneurysm was surgically removed. Subsequently, the boy recovered gradually. A new MRI scan after two months showed less oedema and a split, partly affected spinal chord. This case shows the importance of excluding possible arteriovenous malformations in a child presenting with progressive neurodegeneration. In particular when there is a family history for Rendu-Osler-Weber disease, scans should be performed instantly to rule out this possibility. The case also highlights the possibility of good recovery of paraplegia in paediatric Rendu-Osler-Weber patients. 1. Introduction When confronted with a paediatric patient with developmental degeneration, the most likely causes are a (congenital) neurologic or metabolic disorder, a genetic defect or syndrome, exposure to a toxic agent, or an infection of the brain or nerve system [1]. The main localisation of such disorders must be searched for in the cranium. With this case report we want to emphasize that an arteriovenous malformation (AVM) might also be responsible for the symptoms of regression, especially when there is a suspicion of Rendu-Osler-Weber disease (ROWD), an autosomal dominant vascular disorder with a variety of clinical manifestations. In this disease epistaxis, gastrointestinal bleeding, and iron deficiency anaemia are most commonly reported, along with characteristic mucocutaneous telangiectases [2]. In addition, AVMs might occur in the pulmonary or hepatic circulations or cerebrally as well as in or around the spinal cord as arteriovenous fistulas (AVFs). These complications demand knowledge of the risks and benefits of screening and treatment in affected patients [3, 4]. We report on a 3-year-old boy, initially presenting with developmental regression. A spinal AVF was
A 13-year-old caucasian boy with cleidocranial dysplasia: a case report
Olga-Elpis Kolokitha, Ioulia Ioannidou
BMC Research Notes , 2013, DOI: 10.1186/1756-0500-6-6
Abstract: A 13-year-old Caucasian boy presented with a chief complaint of delayed eruption of the permanent anterior teeth. The patient was subsequently diagnosed with CCD based on the clinical examination, panoramic X-ray, anterior-posterior and lateral cephalogram, and chest radiograph findings. The details of this case are herein reported because of the extremely low incidence of this disorder.CCD is of clinical importance in dentistry and medicine because it affects the bones and teeth and is characterized by many changes in skeletal patterning and growth. Particularly in dentistry, CCD is of great clinical significance because is associated with delayed ossification of the skull sutures, delayed exfoliation of the primary teeth, lack of permanent teeth eruption, multiple supernumerary teeth, and morphological abnormalities of the maxilla and mandible. Patients with CCD seek treatment mainly for dental problems. Knowledge of the pathogenesis, clinical characteristics, and diagnostic tools of CCD will enable clinicians to render the appropriate treatment to improve function and aesthetics. Early diagnosis of CCD is crucial for timely initiation of an appropriate treatment approach.Cleidocranial dysplasia (CCD) is a rare congenital skeletal disorder that affects the bones and teeth and shows an autosomal inheritance pattern. The disorder is characterized by hypoplasia or aplasia of the clavicles, delayed closure of the fontanelles, supernumerary teeth, short stature, and other changes in skeletal patterning and growth [1-3].Hereditary transmission of this syndrome was reported many years ago; however, the etiology and pathogenesis of the syndrome has remained unknown for many decades. Genetic studies of individuals from families bearing the syndrome, as well as experimental studies on transgenic mice, have presented new data regarding the syndrome’s clinical manifestation and type of hereditary transmission. The responsible gene for the pathogenesis of CCD has been mapped o
Allergic bronchopulmonary aspergillosis with aspergillus sinusitis-′9′ year old boy
Das Pratima,Arya Rakesh,Shrivastava S
Lung India , 2008,
Abstract: A case of Broncho Pulmonary Aspergillosis with Aspergillus Sinusitis was diagnosed in a nine year old boy after clinical and immunological investigations. He responded well after treatment with steroid and itraconazol.
Aneurysmal Bone Cyst of the Skull Base in a 17-Year-Old Boy Who Was Referred with Unusual Presentation
Leila Aghaghazvini,Nahid Sedighi,P Karami,Shirin Aghaghazvini
Iranian Journal of Radiology , 2011,
Abstract: Aneurismal Bone Cyst (ABC) is an osteolytic lesion"ncommonly observed in the first and second decades of"nlife more in females. They typically involve the long"nbones. Skull base involvement is rare. We describe"na 17-year-old boy with ABC of the skull base with"nforamen Jugular symptoms. Our case presented with a"nhistory of hoarseness for 2 years and facial asymmetry"nand left sided hearing loss from 5 months ago with no"nhistory of trauma or surgery. On physical examination,"nhe had left-sided sensorineural hearing loss with left"njugular foramen syndrome. The exam was otyherwise"nunremarkable. On MRI sequences an iso signal"nAbstracts"nIran J Radiol 2011, 8 (Supp.1) S61"nlobulated well defied mass containing few high signal"nareas in T1W and heterogeneous high signal (T2W"nand Flair) was noted arising from the jugular foramen"nextending to the inferior cerebello-pontine angle"nwhich showed severe enhancement containing low"nsignal areas. No fluid-fluid level or enhancing septa was"nnoted. On CT scan a lytic expansile mass was detected"non the left side of foramen magnum and clivus with"ninvolvement of petrous apex and the internal auditory"ncanal. According to MRI findings, glomus jugular,"nschwannomas and meningiomas, but based on CT"nscan and MRI findings giant cell tumor and based on"nthe patient;s age ABC were our differential diagnosis."nThe lesion was only resected (without radiotherapy)"nand histopathology confirmed an ABC. No recurrence"nwas observed after 6 months. Our case was interesting"nbecause of its rarity; not only the clinical jugular"nforamen syndrome but also the unusual radiological"npresentations such as severe enhancement, lack of"nfluid level and multi osseous involvement."nKeywords: Aneurysmal Bone Cyst, Foramen Jugular,"nPetros, Skull bBase, Clivus
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