Boy Presenting Research Articles

Paediatric torsion of the paradidymis

Abstract Torsion of the paradidymis is an uncommon diagnosis made in children after scrotal exploration. It usually presents as a painful hemiscrotum warranting exploration to exclude torsion of the testis, though it may be painless. We present a case of torsion of the paradidymis in a four-year-old boy presenting with a painful hemiscrotum and review similar cases in the literature.

Acute torsion and ischemia of the appendix in a young child

Abstract Torsion of the vermiform appendix is a rare diagnosis; its clinical and radiographic presentation can mimic that of acute appendicitis. We report the case of a two-year-old boy presenting with a one day history of lower abdominal pain and serial ultrasound examinations suspicious for atypical acute appendicitis. Operative findings revealed a necrotic and engorged appendix with a 720° clockwise torsion at its base. Final pathology was consistent with ischemic necrosis in the setting of lymphoid hyperplasia. A brief update on the current body of literature regarding pediatric torsion of the vermiform appendix is provided.

Mutation in an alternative transcript of CDKL5 in a boy with early-onset seizures.

Infantile-onset epilepsies are a set of severe, heterogeneous disorders for which clinical genetic testing yields causative mutations in ∼20%–50% of affected individuals. We report the case of a boy presenting with intractable seizures at 2 wk of age, for whom gene panel testing was unrevealing. Research-based whole-genome sequencing of the proband and four unaffected family members identified a de novo mutation, NM_001323289.1:c.2828_2829delGA in CDKL5, a gene associated with X-linked early infantile epileptic encephalopathy 2. CDKL5 has multiple alternative transcripts, and the mutation lies in an exon in the brain-expressed forms. The mutation was undetected by gene panel sequencing because of its intronic location in the CDKL5 transcript typically used to define the exons of this gene for clinical exon-based tests (NM_003159). This is the first report of a patient with a mutation in an alternative transcript of CDKL5. This finding suggests that incorporating alternative transcripts into the design and variant interpretation of exon-based tests, including gene panel and exome sequencing, could improve the diagnostic yield.

Solid Variant of Aneurysmal Bone Cyst of the Temporal Bone

Aneurysmal bone cysts (ABC) are benign, rapidly growing osteolytic lesions. Solid variant of ABC (SVABC) is a rare subtype of ABC that has not been reported in the temporal bone. We report the case of a 6-year-old boy presenting with a slowly enlarging bony protuberance over the right zygomatic/malar eminence region. Computed tomography and magnetic resonance imaging demonstrated a 2.6 × 5.8 × 5.1 cm temporal bone mass involving the right mastoid, petrous, and temporal squamosal calvarium, with extradural intracranial extension to the middle cranial fossa. The patient underwent preoperative embolization of feeder arteries followed by combined neurosurgical and neurotologic resection. Histopathology revealed characteristic ABC features with interspersed areas of intralesional osteoid formation. Solid variant of ABCs are rare lesions of the skull base that present a diagnostic challenge given their unique radiographic and histologic features. Thorough cytogenetic evaluation is warranted to rule out potential malignant secondary causes. Early surgical resection is essential due to the risk of intracranial extension. This is the first report of ABC of any type with concurrent involvement of the squamous, mastoid, and petrous portions of the temporal bone and the first report of SVABC of the temporal bone.

Anderson-Fabry disease.

Anderson-Fabry disease.

Spontaneous Repeated Disappearance and Recurrence of Multiple Spinal Intradural Arachnoid Cysts in a Child

Spinal intradural arachnoid cysts are rare in the pediatric population. We present a rare case of intradural spinal arachnoid cysts that spontaneously and repeatedly disappeared and reoccurred. A 2-year-and-8-months-old boy presenting with lower extremity weakness was found to have spinal intradural arachnoid cysts in cervical and thoracolumbar regions at separate times. Although spontaneous disappearance of both lesions was observed, surgical treatment was finally performed for the symptomatic recurrent thoracolumbar lesion. To the best of our knowledge, this is the first report of spontaneously disappearing and recurring spinal arachnoid cysts.

Orbital myocysticercosis in Abakaliki: A case report

Cysticercosis describes human soft tissue infestation with the larval form of the pig tapeworm Taenia solium. It may affect the brain parenchyma, orbital or intraocular tissues, striated muscle, viscera, subcutaneous tissue, or skin. Clinical presentation depends on the location. We report a case of an 8-year-old boy presenting with painful proptosis and inferior globe displacement from myocysticercosis of the left superior rectus muscle. The radiological findings of a thick cyst capsule appearing as a well-defined hyperdense ring with a central hypodense core and a hyperdense focus within the core representing the scolex were classical of the disease. The patient responded well to oral antihelminthic and steroid therapy with no residual deficits. Cysticercosis is endemic in developing countries. The increased awareness of the different disease presentations will result in a high index of suspicion which is needed for early diagnosis and institution of appropriate treatment.

Mycoplasma-induced pustulosis with perifollicular involvement

Mycoplasma pneumoniae-induced rash and mucositis (MIRM) is a disease characterized by mucosal involvement with variable cutaneous manifestations induced by M. pneumoniae infection. Previously reported rash morphologies include vesiculobullous, targetoid, papular, macular, and morbilliform lesions. Pustulosis is a rare presentation of MIRM that has been described only once before in the literature to our knowledge. We report a case of a 13-year-old boy presenting with a pustular skin eruption induced by Mycoplasma infection. Ours' is the second report of MIRM, to our knowledge, presenting with pustulosis and the first, to our knowledge, to first to describe the histopathologic finding of perifollicular neutrophilic infiltration in MIRM.

Tachycardia-induced Cardiomyopathy in a Teenage Boy

Tachycardiomyopathy or tachycardia-induced cardiomyopathy (TIC) is a relatively rare but completely or partially treatable condition, where there is an impairment of left ventricular (LV) function secondary to chronic, continuous, or intermittent tachycardia, which presents as heart failure. It has been shown that the rate control by means such as cardioversion, negative chronotropic agents, and surgical- or catheter-based atrioventricular nodal ablation, depending on the etiology, resulted in significant improvement of systolic function. The diagnosis of TIC is entertained following the observation of improvement in LV systolic function, after necessary therapy to control the arrhythmia or heart rate. It is necessary that the clinicians should have a high index of suspicion while dealing with LV systolic dysfunction or dilated cardiomyopathy and should control the arrhythmia stringently. This case report describes a 14-year-old boy presenting with breathlessness of 18–24-month duration who had features of dilated cardiomyopathy on echocardiography. Impaired LV systolic function was due to fascicular ventricular tachycardia and he recovered completely after catheter-based ablation within a period of 5–6 months.

Tragic Teenage Boy Presenting With Calluses Due to Dermatophagia

Callus due to dermatophagia has rarely been reported in dermatology literature. Patients with this disorder usually present with skin damage, bleeding, blistering and discoloration, especially around the fingernails. Moreover, the presence of callus on the dorsum of proximal phalanges has also rarely described in the literature of PubMed, Google Scholar and Research Gate. We hereby describe a 16-year-old boy with bilateral calluses, on the dorsal aspects of the proximal phalanges of the forefingers. General physical examination revealed that the patient had a mental illness and a habit of biting his fingers at the affected sites for two years. We performed this report to emphasize the importance of the relationship between dermatophagia and calluses presenting on the dorsum of the proximal phalanges of the fingers as calluses are most often located on the feet and knuckles of the hands. Therefore, any patient experiencing a similar lesion to the one in our case needs a proper history taken and assessment of mental state to exclude associated psychiatric comorbidity.

Epidermolytic Palmoplantar Keratoderma of Vörner-Case Report

Fundaments: Epidermolytic palmoplantar keratoderma (EPPK), Vorner type (EPPK, OMIM 144200), rare autosomal dominant genodermatosis, first described by Vorner in 1901, is the most common form of diffuse keratoderma clinically characterized by the total area of hyperkeratosis on palms and soles. It is usually due to a dominant mutation in the keratin 9 gene (KRT9), located in chromosome 17, which is specific for the palmoplantar skin.Case report: A two-year-old boy presenting hyperkeratosis of palms and soles since the first month of birth. Diffuse hypertrophic plaques with yellowish keratosis and fissures limited to palms and soles, and distinct erythematous margin at the border of normal-appearing skin, were noticed. A punch biopsy of the palms showed epidermolysis in spinous and granular layers, hyperkeratosis and irregular clumped keratohyaline granules. Discussion: EPPK integrates a complex group of uncommon keratodermas, mainly based on the morphologic and topographical characteristics, and associated systemic alteration. It is the most frequent form of such diseases and usually appears during the first weeks or months after birth, characterized by diffuse thickening of the skin of palms and soles with well-circumscribed erythematous borders. This disease may be followed by other ones, above all neoplasias, and probably arises due to segregation of oncogenes. Histopathologically, EPPK presents the characteristic features of epidermolytic hyperkeratosis and vacuolar cytolysis in the upper spinous and granular layers, large irregularly shaped keratohyalin granules and hyperkeratosis, and electron microscopy shows vacuolization of keratinocytes of the granular layer and clumping of keratin filaments. It is differentiated from other palmoplantar keratodermas by the lack of other cutaneous findings and by the presence of histologic features of epidermolytic hyperkeratosis. Currently, there are few therapeutic resources, which are mostly symptomatic. RNA interference strategies are being investigated as an approach to allele-specific gene silencing for dominant-negative keratin diseases.

A boy with 46,X,+mar presenting gynecomastia and short stature.

A 15-year-old boy was referred due to gynecomastia and short stature. He was overweight and showed the knuckle-dimple sign on the left hand, a short fourth toe on the left foot, and male external genitalia with a small phallus. His levels of estradiol and follicle-stimulating hormone were increased, and his testosterone concentration was normal. Other hormonal tests were within the normal range. Radiographs showed short fourth and fifth metacarpals and fourth metatarsal bones. The karyotype was reported as 46,X,+mar, and the marker chromosome was shown to originate from the Y chromosome, which was identified by fluorescence in situ hybridization. Polymerase chain reaction and direct sequencing were used to clarify the deleted loci of the Y chromosome by making use of Y-specific sequence-tagged sites (STSs). The sex-determining region Y and centromere were verified, and there were microdeletions on the long arm of the Y chromosome. The azoospermia factor (AZF) b region was partially deleted, and AZFa and AZFc were completely deleted. Two STS probes of sY143 and the Y chromosome RNA recognition motif in AZFb showed positive signals corresponding to Yq11.223. The karyotype of the patient was interpreted as 46,X,der(Y)del(Y)(q11.21q11.222)del(Y)(q11.23qter). Herein, we report a rare case of a boy presenting with gynecomastia and short stature with 46, X, +mar, which originated from the Y chromosome, which was identified to have Yq microdeletions.

Air gun orbitocranial penetrating injury: emergency endovascular treatment and surgical bypass following pellet migration to middle cerebral artery: case report

The authors describe a 14-year-old boy presenting with an orbitocranial penetrating injury (OPI) from a metallic air gun pellet to the left eye who developed hemiparesis and speech difficulty due to migration of the pellet to the left middle cerebral artery. They highlight the potential complications associated with both OPIs and intravascular foreign body migration and occlusion by describing the patient's presentation, results of imaging evaluation, and the combined endovascular treatment and extracranial-intracranial bypass, which resulted in rapid restoration of blood flow and full neurological recovery with intact vision. Based on this case and a review of the literature on intracranial foreign body migration with resultant vascular occlusion, the authors recommend that complex OPIs be treated at centers that offer both neuroendovascular and neurovascular surgical capabilities on an urgent basis to manage both the primary injury and potential secondary vascular compromise.

Leber Hereditary Optic Neuropathy and Longitudinally Extensive Transverse Myelitis.

Leber Hereditary Optic Neuropathy is an inherited optic neuropathy caused by mitochondrial DNA point mutations leading to sudden, painless loss of vision. We report a case of an 8-year-old boy presenting with a radiological phenotype of longitudinally extensive transverse myelitis on a background of severe visual impairment secondary to Leber Hereditary Optic Neuropathy (LHON). He was found to have dual mitochondrial DNA mutations at 14484 (MTND6 gene) and 4160 (MTND1 gene) in a family with a severe form of LHON characterised by not only an unusually high penetrance of optic neuropathy, but also severe extra-ocular neurological complications. The m.14484T>C mutation is a common LHON mutation, but the m.4160T>C mutation is to our knowledge not reported outside this family and appears to drive the neurological manifestations. To our knowledge there have been no previous reports of spinal cord lesions in children with LHON.

Cutaneous Larva Migrans Associated With Löffler's Syndrome in a 6-Year-Old Boy.

Cutaneous larva migrans is a frequent dermatologic problem among travelers in tropical areas, but its association with Löffler's syndrome is an extremely rare condition, particularly in children. Here, we describe a 6-year-old boy presenting cutaneous larva migrans associated with Löffler's syndrome.

Familial 1p36.3 microduplication resulting from a 1p-9q non-reciprocal translocation

Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36 microduplications have rarely been reported. We describe a three years old boy presenting with a severe global developmental delay and a few dysmorphic features. Cytogenetic analyses revealed a maternally inherited 3.35 Mb microduplication of chromosomal band 1p36.3. The maternal grandfather is also carrier of the same chromosomal rearrangement.Interestingly, the duplicated 1p36.3 segment was found to be localized at the telomeric end of the long arms of a chromosome 9, probably deriving from a 1p36.3-9qter non-reciprocal translocation. This particular type of chromosomal translocation has rarely been reported, and its mechanism is unclear. The phenotypical features associated with 1p36.3 microduplication vary due to the non-recurrent breakpoints of the rearrangements in this particular region. However when compiling the few described cases the phenotypical spectrum seems to include mainly developmental delay, mild facial dysmorphism, and neurological, cardiac and skeletal anomalies. The description of new patients carrying a 1p36.3 duplication like ours will lead to further delineation of the phenotypical spectrum and may help to find critical regions and causative genes implicated in the phenotype.

Pediatric idiopathic hypercalciuria with bilateral nephrolithiasis and hypertensive urgency

BackgroundPediatric nephrolithiasis is an important cause of morbidity worldwide. Even with low prevalence, nephrolithiasis can cause detrimental long-term effects on kidney function. Idiopathic hypercalciuria is the most common cause of renal stones in children. This case report presents a pediatric patient with bilateral nephrolithiasis and hydronephrosis associated with underlying idiopathic hypercalciuria.Case descriptionWe report on a 17-month-old boy presenting with two days of high fever, irritability, nausea, and poor feeding. The patient had been diagnosed with bilateral nephrolithiasis at the age of 6 months. On examination, the patient was febrile and hypertensive. Laboratory evaluation revealed anemia, leukocytosis, normokalemia, normocalcemia, and normal glomerular filtration rate. Blood gases were within normal limits. Urinalysis revealed pH 5.0, hematuria, pyuria, and bacteriuria. Urine culture was positive for Proteus mirabilis and Enterobacter gergoviae. Electrolyte analysis from urine samples revealed hypercalciuria. Ultrasonography found stones at the left ureteropelvic junction with corresponding grade I hydronephrosis and stones in the right lower calyx without hydronephrosis. The patient was treated with antibiotics, an antihypertensive agent, thiazide diuretics, and was referred to a pediatric urologist.ConclusionThis case can be considered as idiopathic. Most children with renal stones have metabolic risk factors including enteric, endocrinologic, or renal sources. Metabolic evaluation is mandatory in pediatric renal stone patients and hypercalciuria is an important etiology to be evaluated. Ignorance of the underlying metabolic abnormality or failure in its identification in pediatric urolithiasis could lead to catastrophic long-term effects.

Pleuropulmonary blastoma—a case report and review of literature

Pleuropulmonary blastoma (PPB) is a very rare, highly aggressive and malignant tumour originating from either the lungs or pleura. It occurs mainly in children of less than 5 or 6 years but may occur in adults rarely. It has a poor prognosis with three different subtypes: cystic (type I), combined cystic and solid (type II) and solid (type III). The PPB should be treated aggressively with surgery and chemotherapy. Here, we report a case of a 14-year-old boy presenting with acute respiratory distress because of left-side PPB. He underwent left-side thoracotomy with surgical resection of PPB followed by adjuvant chemotherapy.

Early manifestations of epileptic encephalopathy, brain atrophy, and elevation of serum neuron specific enolase in a boy with beta-propeller protein-associated neurodegeneration

Mutations in WDR45 are responsible for beta-propeller protein-associated neurodegeneration (BPAN), which is an X-linked form of neurodegeneration with brain iron accumulation. BPAN mainly affects females and is characterized by seizures and developmental delay or intellectual disability until adolescence or early adulthood, followed by severe dystonia, parkinsonism, and progressive dementia. However, rare male patients have recently been reported with hemizygous germline mutations in WDR45 and severe clinical manifestations, such as epileptic encephalopathies. We report here a 4-year-old boy presenting with profound developmental delay, non-syndromic epileptic encephalopathy, and early brain atrophy. The level of serum neuron specific enolase (NSE) was elevated, but the level of serum phosphorylated neurofilament heavy chain was not detectable. Targeted next-generation sequencing identified a de novo hemizygous splice donor site mutation, c.830+1G > A in WDR45, which resulted in a splicing defect evidenced by reverse transcriptase-PCR. Mutations in WDR45 should be considered as a cause for epileptic encephalopathies in males with profound developmental delay and brain atrophy. Furthermore, elevation of serum NSE may contribute to early diagnosis of BPAN.

Renal tubular acidosis with an elevated urinary β-2 microglobulin in a boy presenting with sporadic hypophosphataemic rickets and intellectual disability (Dent's Disease)

Renal tubular acidosis with an elevated urinary β-2 microglobulin in a boy presenting with sporadic hypophosphataemic rickets and intellectual disability (Dent's Disease)