Boy Presenting Research Articles

Isolated neurological symptoms in a teenager with COVID-19

Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV2) predominantly affects the respiratory system. However, COVID-19 associated Multisystem Inflammatory Syndrome in Children (MIS-C) is a state of hyper inflammatory shock affecting the cardiovascular, gastrointestinal, hematologic and central nervous system. Isolated neurological manifestations have rarely been reported, especially in children and adolescents. We describe a 17-year-old boy presenting with intermittent headaches, altered mental status and right sided weakness, was found to be positive for SARS-COV2 from nasopharyngeal sampling. His neurological symptoms lasted for three weeks and subsequently improved spontaneously. Keywords: SARS-CoV2; Encephalitis; Headaches.

A Rare Case Report of Unilateral Maxillary Mass from Adrenal Neuroblastoma.

Neuroblastoma is the most common extracranial neoplasm among paediatric patients, which arises from ectodermal neural crest cells. The most frequent primary site of neuroblastoma arises from retroperitoneum, specifically in the adrenal medulla. We present a rare case of adrenal neuroblastoma metastasis to maxillary sinus in a 20month-old boy presenting with right maxillary swelling for the past 2months. Computed tomography (CT) scan of paranasal sinus demonstrated right maxillary mass. A biopsy performed via a sublabial approach, surprisingly revealed neuroblastoma. Subsequent further workup depicted a huge right adrenal tumour. He was diagnosed with adrenal neuroblastoma stage 4 and treated with chemotherapy and surgical resection.

A rare case of difficult airway management in a Klippel-Feil syndrome pediatric patient with osseous torticollis undergone orthopedic surgery

BackgroundOrthopedic surgery for cervical torticollis poses potential threat to airway management both in tracheal intubation and extubation. Klippel-Feil syndrome (KFS) is a complex syndrome of osseous and visceral anomalies. The anatomical characteristics of KFS might have significant implications for airway management.Case presentationThis is a rare case of an 8-year-old boy presenting with osseous torticollis, congenital occipito-atlantal deformity, congenital basilar invagination and KFS undergone elective torticollis correction surgery. Though with difficulty, tracheal intubation was successfully performed. Extubation failed twice on postoperative day 2 and 10, and required tracheostomy. Based on radiological findings, we speculated that prolonged airway edema accounted for the main reason of the failed extubation, the hypertrophic tonsil and occipito-cervical fusion resulted in reduced oropharyngeal space and limited cervical range of motion. Moreover, the Chiari malformation and KFS complicated the airway condition and lead to prolonged airway obstruction. The tracheostomy casing was removed 1 month later.ConclusionsCautions should be taken in extubation of pediatric patients undergone major osseous torticollis surgery. Reintubation should be prepared in case of failed extubation. Severe post-operative airway edema, complicated with hypertrophic tonsil, the structural abnormalities in the oropharyngeal cavity, and occipito-cervical deformities constituted the decreased oropharyngeal space and resulted in failed extubation. For severe airway compromise and prolonged intubation, tracheostomy should be considered.

Out-of-hospital resuscitation of a 3\u2009month old boy presenting with recurrent ventricular fibrillation cardiac arrest: a case report

A 3 month old boy, with no known health conditions, suffered a sudden collapse at home. On first EMS arrival, ventricular fibrillation (VF) cardiac arrest was identified and resuscitation following UK national guidelines was initiated. He remained in cardiac arrest for over 25 min, during which he received 10 defibrillation shocks, each effective, but with VF reoccurring within a few seconds of each of the first 9. A return of spontaneous circulation (ROSC) was achieved after the 10th shock. The resuscitation was conducted fully in his home, with the early involvement of Advanced Paramedic Practitioners specialising in critical care (APP- CC). Throughout his resuscitation, there remained a strong focus on delivering quality resuscitation in situ, rather than a ‘load and go’ approach that would have resulted in very early conveyance to hospital with on-going CPR.The patient was subsequently discharged home and is making an excellent recovery. The arrest was later determined to have been caused by a primary arrhythmia as a result of a previously unidentified non-obstructive variant hypertrophic cardiomyopathy.We present data downloaded from the defibrillator used during the resuscitation that illustrates clearly the recurrent nature of his fibrillation.

Pericardial Hydatidosis in a Young Boy

Persistent chest pain is an uncommon entity in adolescent population, with majority of cases having no discernible cardiac etiology. We report a young boy presenting with chest discomfort due to underlying large pericardial hydatid cyst. Initial diagnostic confirmation was based on classic echocardiographic features, including presence of sonographic water lily sign. Patient subsequently underwent successful surgical excision of cyst under cardiopulmonary bypass, along with perioperative antihelminthic and anti-inflammatory drug therapy. Patient continues to remain symptom free on follow-up, with no recurrence in cyst formation. This case highlights the high index of suspicion needed in diagnosing such atypical cardiac cysts, especially in patients from endemic zones.

Two novel variants in signal transduction and activator of transcription 1 (STAT1) coiled-coil region cause STAT1 gain of function in an infant presenting with Pneumocystis jiroveci pneumonia (PJP) and CMV viremia

Gain-of-function (GOF) mutations in STAT1 are associated with a diverse phenotype, including chronic mucocutaneous candidiasis and autoimmunity. We report a 5-month-old boy presenting with PJP, CMV viremia, and immune-mediated hepatitis with novel compound heterozygous in-frame deletions in the coiled-coil region of STAT1.

Chikungunya rickettsial coinfection with fatal outcome: A diagnostic dilemma

Acute febrile illness caused by multiple infectious etiologies is not uncommon, especially in endemic countries like India. Recently, there has been increased mortality with chikungunya infection in children. There are several studies of coinfection of chikungunya with dengue, but coinfection with rickettsial infection is rare. We describe a 14-year-old boy presenting with chikungunya with probable rickettsial coinfection with a fatal outcome.

An Atypical Case of Burkitt Lymphoma with Diffuse Peritoneal, Omental and Periportal Invasion

Diffuse peritoneal and especially periportal invasion of Burkitt lymphoma is very rarely seen. We present a case of a 16-year-old boy presenting with abdominal pain and constipation, without improvement after enemas. Abdominal ultrasound revealed a diffuse infiltrating peritoneal mass, omental caking, ascites, and a periportal mass, confirmed by computed tomography (CT). No lymphadenopathies were seen. Biopsy was performed and the diagnosis of Burkitt lymphoma was made. Although very rare, it is important to include lymphoma in the differential diagnosis of diffuse peritoneal and periportal invasion in children, as it can mimic peritoneal carcinomatosis.

Familial pheochromocytoma in a nine-year-old boy presenting with hypertension and headache

Familial pheochromocytoma in a nine-year-old boy presenting with hypertension and headache

Clinical and Radiologic Characteristics of Caudal Regression Syndrome in a 3-Year-Old Boy: Lessons from Overlooked Plain Radiographs

Caudal regression syndrome (CRS) is a rare neural tube defect that affects the terminal spinal segment, manifesting as neurological deficits and structural anomalies in the lower body. We report a case of a 31-month-old boy presenting with constipation who had long been considered to have functional constipation but was finally confirmed to have CRS. Small, flat buttocks with bilateral buttock dimples and a short intergluteal cleft were identified on close examination. Plain radiographs of the abdomen, retrospectively reviewed, revealed the absence of the distal sacrum and the coccyx. During the 5-year follow-up period, we could find his long-term clinical course showing bowel and bladder dysfunction without progressive neurologic deficits. We present this case to highlight the fact that a precise physical examination, along with a close evaluation of plain radiographs encompassing the sacrum, is necessary with a strong suspicion of spinal dysraphism when confronting a child with chronic constipation despite the absence of neurologic deficits or gross structural anomalies.

Unusual presentation of tuberculous osteitis distal fibula

We present the case of a 10-year-old boy presenting with pain and swelling on the lateral aspect of the left ankle associated with occasional fever of 1-month duration. Before he presented to us, he was treated with antibiotics and anti-inflammatory agents on two occasions in a local hospital for the same complaints. The swelling disappeared and mild pain persisted. The inflammatory markers were high, and the X-ray was not typical of either pyogenic infection or Ewing's sarcoma. Hence, a biopsy was done and the material was sent for histopathological and bacteriological studies. The histopathology report was typical of tuberculosis. The child became asymptomatic after antituberculous treatment. The case is presented because of the unusual clinical and radiological presentation of tuberculosis in one of the rarest sites reported in the literature.

Post typhoid retinitis and neurosensory detachment

Typhoid fever is an acute infectious disease capable of rarely producing ocular complications. These complications are usually seen after the third week, and is notoriously called, as the "Week of complications" by direct invasion or by allergic immune mediated reactions. It can present as uveitis, vasculitis, choroiditis, endophthalmitis or panophthalmitis. We here present an 18 year old boy presenting as retinitis with severe exudation and neurosensory detachment and which was managed successfully with steroids.

Ewing sarcoma of proximal tibial epiphysis: An unusual presentation with review of literature

Ewing’s sarcoma/Primitive neuroectodermal tumor (ES/PNET) of bone is a rare childhood tumor most commonly located in the metadiaphysis. It is more commonly seen in the appendicular skeleton and typically involves femur, tibia, humerus or fibula. Within the long bones, the tumor is always metaphyseal or diaphyseal (mid-diaphysis: 33%, metadiaphysis: 44%, metaphyseal: 15%). Rarely 1%-2% of ES may involve epiphysis. In skeletally immature patients, lesions of the epiphysis are rarely malignant, with the most common diagnosis benign chondroblastoma. We report a case of ES of the tibial epiphysis in a 16 year old boy presenting with complaints of pain around right knee joint for six months associated with fever and restricted mobility of knee joint. Magnetic resonance imaging (MRI) of the patient’s right knee revealed a large lesion in the centre of upper tibial epiphysis showing hypointense signal on T1 & T2W1 extending from the articular surface through the epiphyseal plate into the upper metaphyseal region. MRI findings suggested an infective pathology with differential diagnosis of Brodie’s abscess and chondroblastoma. Based on the imaging characteristics, the patient’s age and the lesion’s location a preliminary diagnosis of chondroblastoma was made. Debridement and curettage of the lesion was performed and sent for histopathological examination. Microscopy and subsequent immunohistochemistry confirmed it to be a case of ES. An extensive research of literature was done and very few reports Of ES at epiphyseal location were found which make our case worth reporting. This case highlights the rarity of epiphyseally located Ewing sarcoma cases and thus suggesting that the diagnosis of ES should also be considered for pediatric epiphyseal tumors. Keywords: Ewing tumor, Primitive neuroectodermal tumor, Metadiaphysis, Epiphysis, Metaphyseal, Chondroblastoma.

NASOPHARYNGEAL ADMANTINOMATOUS CRANIOPHARYNGIOMA IN 14 YEARS OLD BOY- A CASE REPORT STUDY

Craniopharyngiomas are rare benign epithelial tumours arising from the pituitary stalk or gland. The sellar and parasellar region is the most commonly involved sites but at times tumors extend below the sellar floor involving the sphenoid sinus, invade the pharynx and reach upto the nasal cavities. Here is a case of 14 years old boy presenting with nasal cavity mass leading to bilateral obstruction and he was operated to excise the mass lesion. Grossly a grayish white cystic mass lesion was obtained after excision biopsy. On cut section, cyst contained a greyish brown thick liquid like material, with the microscopic findings of densely packed nodules of well differentiated epithelium along with stellate reticulum and wet keratin consistent with the diagnosis of craniopharyngioma. Clinical features along with imaging characteristics (except site of the lesion) and histopathological findings were all consistent with primary admantinomatous craniopharyngioma,

Cardiac strangulation after epicardial pacing: the importance of non-specific symptoms and a low index of suspicion.

Cardiac strangulation is a rare and potentially deadly complication of epicardial pacemaker implantation. A young boy presenting with chest pain and tiredness almost 7 years after pacemaker implantation was found to have cardiac strangulation. Literature review revealed 22 cases reported to date with a worrying rise in the number of reports over the past 3 years. Strangulation is associated with implantation of leads at a young age and appears to be related to somatic growth. Serial assessment with chest X-ray and echocardiogram is recommended, at least until full adult growth is attained with further coronary artery imaging reserved for symptoms or suspicious echocardiographic findings. If cardiac strangulation is diagnosed prompt replacement of the offending system is needed.

Pediatric Acute Hemorrhagic Leukoencephalitis (Weston-Hurst syndrome): A Rare Entity

Abstract Introduction/Objective Acute hemorrhagic leukoencephalitis (Weston-Hurst syndrome) is a rare, fulminant inflammatory hemorrhagic demyelination of the brain white matter, and it is considered to be the most severe form of acute disseminated encephalomyelitis (ADEM). Herein we describe a case of 6-year-old boy presenting with elevated intracranial pressure and uncal herniation. Brain MRI showed a large right temporoparietal T2 hyperintense lesion with edema, abnormal perivascular enhancement and midline shift. Emergent decompressive craniotomy with brain biopsy was performed. Results H&E sections of the brain lesion revealed neutrophilic small vessel vasculitis with extravasation of blood and fibrin. Predominantly in a perivascular distribution were infiltrates of neutrophils and in areas foamy macrophages. Additionally, the white matter was studded with hemorrhages of varying size. Sections stained with Luxol Fast Blue for myelin and with a neurofilament immunostain for axons were compared to reveal selective perivascular loss of myelin with relative sparing of axons. Conclusion The constellation of acute hemorrhages, neutrophilic infiltration and selective loss of myelin with relative sparing of axons is characteristic of this exceptional, hyperacute variant of acute disseminated encephalomyelitis. Histomorphologic diagnosis is characteristic and may be crucial for timely decision for treatment of this often fatal disease.

Primary synovial sarcoma thyroid: an unusual presentation

Primary Synovial sarcoma of the thyroid gland is a rare sarcoma. We report a case of synovial sarcoma of the thyroid gland in a 2-yr-old boy presenting with a palpable progressively increasing neck mass, high resolution ultrasound revealed a heterogeneous lesion measuring 5 x 4 cm identified in the right lobe compressing the left lobe. A total thyroidectomy was performed and grossly both the lobes were involved. Histologically, the tumor was a biphasic synovial sarcoma which was confirmed by immunohistochemical markers showing positive expression for vimentin, Epithelial membrane antigen &Transducin-like enhancer of split-1. This is an unusual location for the occurrence of primary synovial sarcoma and aggressive nature the early diagnosis is difficult, and no definite treatment regimens are being defined due to the rarity of neoplasm.

HEREDITARY NEUROPATHIES & ALS: P.112 Description of muscular involvement in a NEFL-caused neurological disease

Neurofilament light chain (NEFL) protein is one of the neurofilament-core-subunits, forming heterodimers. Toxic neurofilament-accumulation is a hallmark of many neurodegenerative disorders and the potential of NEFL to serve as a serum biomarker in different neurological disorders was investigated. NEFL mutations cause demyelinating, axonal and intermediate forms of Charcot-Marie-Tooth disease (CMT), whereby most of the mutations are dominant missense variants functioning through a gain-of-function mechanism by perturbing neurofilament assembly and organelle transportation in axons. Muscular involvement is described as a clinical feature in CMT2E patients mostly recognized as a secondary effect but overlapping myopathic and neurogenic findings were described in some cases suggesting that NEFL-mutations might be also causative for heterogeneous neuromuscular diseases. However, studies focusing on NEFL-based myopathological changes are still rare. Molecular genetic testing, histopathological, ultra-morphological and muscle proteome studies were done in an 8-year-old boy presenting with muscle weakness, myalgia and cramps. Phenotyping revealed reduced endurance (walking distance <500m), muscle stiffness accompanied by slowly progressive gait disturbances, brisk reflex levels, sensory ataxia, pes cavus, small CMAP, slightly reduced NCV and prolonged distal latencies. CK was 205 U/l. A heterozygous de novo NEFL variant (c310.T>G, p.Phe104Val) was identified. Electron microscopy showed focal Z-band alterations and minicores in some myofibers indicative for myofibrillar disintegration. Proteomic findings are indicative for a vulnerability of proteins beyond cytoskeleton. Our findings provide new morphological and biochemical insights into vulnerability of (proximal) muscle upon the presence of a dominant NEFL missense mutation and support the concept that NEFL might be causative for heterogeneous neuromuscular diseases.

Kimura\u2019s disease mimicking thoracic spine dumbbell neurogenic tumor: a case report and literature review

BackgroundKimura’s disease is a rare, benign chronic inflammatory disease of unknown etiology that mostly affects Asians. The disease typically presents as subcutaneous masses in the head or neck region that are predominantly found in the preauricular and submandibular areas.Case presentationA 7-year-old boy presenting with paralysis of both lower extremities and a thoracic spine dumbbell mass was initially diagnosed with a neurogenic tumor, but the pathological and laboratory examinations confirmed the diagnosis of Kimura’s disease. The paralysis symptom disappeared rapidly, but the patient had developed a recurrent mass in the cervical vertebral canal at the 9-month follow-up.ConclusionTo our knowledge, no prior published literature has revealed Kimura’s disease cases that mimic dumbbell neurogenic tumors. Here, we report such a case of Kimura’s disease for the first time and provide a brief review of the literature.

A 4-year-old boy presenting with chronic constipation and ribbon like stool

This article has no abstract. The first 100 words appear below: A 4-year-old boy presenting with constipation for 1 month of his age. He used to defecate 3-4 days interval with rectal stimulation. The stool was semisolid, ribbon-like, and not associated with abdominal or perianal pain. He had a history of delayed passage of meconium. There was no history of the delayed developmental milestones. He received several medications including lactulose, magnesium hydroxide but there was a poor response. On examination, he was mildly pale, with no facial dysmorphism, anthropometrically well thrived. The back and spine were normal. There was no thyroid swelling. The skin was normal. The tone and jerk of lower limbs were normal.