Year-old Female Child Research Articles

Developmental delay and autism with hypertrichosis cubiti: a clue to the diagnosis of Wiedemann-Steiner syndrome

Wiedemann-Steiner syndrome (WSS) is a rare disorder with dysmorphic features, developmental delay, autism, and hypertrichosis. We report a case of a seven and half year-old female child born to a non-consanguineous couple with developmental delay, autism, behavioral abnormality and hypertrichosis cubiti diagnosed to have KMT2A gene associated WSS. It is important for the treating clinician to be aware of the characteristic signs and symptoms of the disorder and the necessity of genetic testing to be able to confirm the diagnosis and manage by multidisciplinary team in any child with developmental delay and autism.

Unusual Variant of Ameloblastoma with Calcifying Epithelial Odontogenic Tumor-like Areas in a Three-Year Old Child

The Calcifying Epithelial Odontogenic Tumor (CEOT) is a benign odontogenic tumor, comprising approximately 1% of all odontogenic tumors. It presents as a slow-growing tumor in posterior mandibular region. A three year-old female child from Multan, reported a swelling in right lower jaw progressively increasing in size eventually causing facial asymmetry. On intraoral examination, a protuberance was seen arising from posterior mandibular region and causing displacement of overlying teeth. The swelling was cystic on palpation and mildly tender. The patient underwent complete excision of lesion at a tertiary care center in her locality. The excision biopsy specimen was received at our lab which was intact and well preserved. A diagnosis of ameloblastoma with Calcifying epithelial odontogenic tumor-like areas was made. The patient was followed up after six months however no complaint of any recurrent swelling in the area of was recorded.

Custard apple seeds induced toxic keratoconjunctivitis

The patient developed severe symptoms of toxic keratoconjunctivitis within 6-12 h following accidental ocular exposure to custard apple seeds (Annona squamosa) which are used as a remedy for lice/dandruff in some parts of India. A 12 year-old female child was diagnosed with custard apple seed-induced toxic keratoconjunctivitis. A patient with informed consent was enrolled. She was advised to use topical antibiotics, lubricating agents and cycloplegic eyedrops. She responded well to treatment and keratoconjunctivitis resolved in 3 weeks with complete restoration of vision in both eyes. This case highlights the importance of prevailing traditional practices. Simple health education and more public awareness of harmful effects of custard apple seeds should be created to prevent such chemical injury.

A high-resolution pediatric female whole-body numerical model with comparison to a male model

Objective. Numerical models are central in designing and testing novel medical devices and in studying how different anatomical changes may affect physiology. Despite the numerous adult models available, there are only a few whole-body pediatric numerical models with significant limitations. In addition, there is a limited representation of both male and female biological sexes in the available pediatric models despite the fact that sex significantly affects body development, especially in a highly dynamic population. As a result, we developed Athena, a realistic female whole-body pediatric numerical model with high-resolution and anatomical detail. Approach. We segmented different body tissues through Magnetic Resonance Imaging (MRI) and Computed Tomography (CT) images of a healthy 3.5 year-old female child using 3D Slicer. We validated the high anatomical accuracy segmentation through two experienced sub-specialty-certified neuro-radiologists and the inter and intra-operator variability of the segmentation results comparing sex differences in organ metrics with physiologic values. Finally, we compared Athena with Martin, a similar male model, showing differences in anatomy, organ metrics, and MRI dosimetric exposure. Main results. We segmented 267 tissue compartments, which included 50 brain tissue labels. The tissue metrics of Athena displayed no deviation from the literature value of healthy children. We show the variability of brain metrics in the male and female models. Finally, we offer an example of computing Specific Absorption Rate and Joule heating in a toddler/preschooler at 7 T MRI. Significance. This study introduces a female realistic high-resolution numerical model using MRI and CT scans of a 3.5 year-old female child, the use of which includes but is not limited to radiofrequency safety studies for medical devices (e.g. an implantable medical device safety in MRI), neurostimulation studies, and radiation dosimetry studies. This model will be open source and available on the Athinoula A. Martinos Center for Biomedical Imaging website.

Cutaneous presentation in chediak – Higashi syndrome – A rare case report

A One and half year-old female child born out of 2consanguineous marriage came with multiple hypopigmented patches over the face, trunk and lower limbs. There was history of recurrent upper respiratory tract infections. On examination she had silvery grey hair, hypopigmented patches and mild hepatomegaly. Ophthalmological examination revealed oculocutaneous albinism. Skin biopsy showed coarse clumps of melanin pigment in the epidermis. Hair mount examination revealed melanin granules in cortex and medulla. Routine blood investigations were within normal limits. Peripheral smear examination showed giant granules in neutrophils and lymphocytes.

Gaucher’s disease with acute lymphoblastic leukemia: A rare co-occurrence

A positive correlation between Gaucher’s disease and hematological malignancies has been suggested in the past three to four decades through various studies. There have been reports suggesting the occurrence of cancers such as multiple myeloma, acute leukemia and chronic myeloid leukemia, and hepatocellular carcinoma in patients with Gaucher’s disease. A 1½-year-old female child presented with a complaint of a slowly growing lump in the left upper abdomen. On subsequent history taking and investigations, a concomitant presence of Gaucher’s cells and leukemic cells (blasts) was found in the bone marrow aspiration and biopsy. A possible correlation, akin to the previous literature, between Gaucher’s disease and acute leukemia, is suggested.

Peutz-Jeghers syndrome a review of gynecological implications and the management of these patients through the presentation of a case report

Background: Peutz-Jeghers Syndrome (PJS) is a rare autosomal dominant genetic condition caused by mutations in STK11 (Serine/threonine kinase 11) gene (OMIM 602216 Serine/Threonine Protein Kinase 11) located in the short arm of chromosome 19 (19p.13.3). Case: We report the case of a 4 and ½ year-old female child with a rare Peutz-Jeghers Syndrome. She was admitted to the Clinic of Gynaecology, the Faculty of Perinatology and Gynaecology, Chair of Adolescence Gynaecology and Sexology at Poznan University of Medical Sciences, in order to undergo preventive medical examinations. The patient was accompanied by her mother. Age and sex-appropriate development. Age-appropriate dental condition. Gynaecological examination was conducted. No changes were identified through palpation. Normal ultrasound picture. No symptoms of genital mucosa estrogenization, which is typical of the patient’s age. A small amount of vaginal discharge was found. Pap smear was conducted to assess vaginal biocenosis. Lacidobacilli deficiency was found and feminine hygiene products, such as Iladian, were recommended. Melanotic macules around the mouth, typical of Peutz-Jeghers Syndrome were identified. Conclusions: Due to the increased cancer risk in patients with Peutz-Jeghers Syndrome, more frequent medical and gynaecological examinations are recommended for the girl. It should be noted that the girl’s mother decision to have her daughter examined at such a young age was appropriate.

Mucocele in Lower Lip as a Result of Trauma

Mucocele is a common salivary gland disorder that can appear on the dorsal surface of the tongue, lacrimal sac, paranasal sinuses, and oral cavity. Mucocele results in alteration of the minor salivary glands due to a mucous accumulation causing limited swelling. Two histological types of mucoceles exist, namely extravasation and retention. Lower lip is the most common site of occurrence of these lesions in the oral cavity and the most probable cause is trauma or habits of lip biting. This report presented a 6½-year-old female child patient having mucocele on the inner side of her lower lip due to fall while playing, which resulted difficulty in mastication and speech. Treatment performed was conventional surgical excision followed by removal of the minor salivary glands.

Child with post COVID MISC presenting with atypical Kawasaki like features in a rural medical college

COVID-19 in pediatric population is often milder but a segment of cases tend to worsen out and present with pediatric multi system inflammatory syndrome. Here we present a 3 year-old female child presenting with acute febrile illness, generalized rashes with loose stools. On examination child was in fluid refractory shock requiring vasoactives, oxygen by non-rebreather mask, antibiotics and other supportive. Investigations revealed neutrophilic leukocytosis, with normal absolute lymphocyte count, thrombocytopenia and elevated inflammatory markers with negative COVID real time-polymerase chain reaction (RT PCR) and positive COVID immunoglobulin G (IgG) antibody, suggesting a post COVID-19 sequelae. Children presenting with multisystem inflammatory syndrome in children (MIS-C) most often have a silent course of acute COVID infection. Lymphopenia and thrombocytosis are not always associated with MIS-C. COVID antibody with inflammatory markers like C-reactive protein (CRP), D-dimer plays an important role in the management and during follow up. More pediatric studies are needed regarding the role of aspirin in MIS-C with Kawasaki disease overlap, choice of anticoagulant in a thrombocytopenic child and any markers which could predict the development of MIS-C during acute COVID infection.

Cardiac Ventricle Laceration in a Battered Child: A Case Report

Cardiac laceration in child abuse cases is uncommon. Very few case studies are available illustrating theleft ventricular rupture following blunt chest injuries. This article presents a case of sudden death of a twoand a half year-old female child brought with history of fall on level ground while playing. The autopsyrevealed multiple types of injuries over the whole body with duration varying from less than a day to morethan 6 months old. Left ventricular rupture and liver laceration were the primary injuries contributing todeath. Child abuse cases should never be examined with a preconception of finding the classical features ofintracranial hematomas.

Long Term Evaluation of Anterior Primary Resin Crown in Pediatric Patient

<p><strong><em>Background: </em></strong><em>Nursing bottle carries is a problematic condition in children. On one side, parents try to supply enough nutrition to their children, though on the other side this night-time bottle feeding habit might cause negative effect on the childrens dental health. Esthetic dental treatment on children have improved greatly over the past few years, as parents expect an almost-complete restoration of their child’s dental condition. The alternatives for pediatrics esthetic dental restoration may depend on the cooperativeness and habit of the child themselves</em><em>, while also taking the child’s development into consideration. <strong>Aim:</strong> to report evaluation of aesthetic restoration on primary teeth. <strong>Case:</strong> A 4 year-old female child was presented by her parents, with damaged four anterior teeth, which made her uncomfortable especially on feeding due to the sharp edges. From history taking we found a night-time bottle-feeding habit, which usually occurred until patient was asleep. <strong>Case Management:</strong> restoration of the four primary incisive teeth was performed using a resin composite crown. Outcome of the treatment was evaluated until the primary teeth exfoliateand permanent teeth arise. <strong>Conclusion:</strong> cooperation between patient, parents, and dentist is important in the dental restorative treatment on paediatric patient. Moreover, a good communication with parents is encouraged, especially on follow-up schedule, treatment cost, success rate and possibility of treatment failure is also encouraged. Staged evaluation is needed due to the natural substitution of the primary teeth by permanent teeth, besides the development process of the jaws.</em></p><p><strong><em>Keywords:</em></strong><em> Nursing bottle caries, esthetic restoration</em>, <em>growthanddevelopment</em></p><p><strong><em>Correspondence</em></strong><strong>: </strong><em>Annisa Listya Paramita, drg., Sp.KGA. Departemen Ilmu Kedokteran Gigi Anak. Fakultas Kedokteran Gigi Universitas Hang Tuah, Surabaya. Jl. Arif Rahman Hakim No. 150, Surabaya. </em></p>

Rhizomelia: A rare cause of congenital cataract

Rhizomelic chondrodysplasia punctata (RCDP) is an autosomal recessive disorder of peroxisomal metabolism characterized by skeletal deformities, cataract, growth retardation, and psychomotor retardation. We report a case of a 4½-year-old female child with complaints of limping and whitish discoloration of the right eye. On the basis of her clinical examination and radiological investigation, she was diagnosed with RCDP. We operated the child for congenital cataract, and posterior chamber intraocular lens (PCOL) was implanted. The rarity of this disorder has prompted us to report this case. Although there is no cure for this disorder, symptomatic and supportive treatment can improve the quality of life in these patients.

Chronic mucocutaneous candidiasis

Chronic mucocutaneous candidiasis is a rare entity characterized by isolated defective immunity against candida infection. It manifests with resistant and relapsing superficial candida infection affecting skin, hair, nails, and mucosae. Although serious invasive disease is uncommon, this condition produces considerable morbidity in the affected. Long-term antifungal treatment is the preferred option. We report a 3½-year-old female child who presented with chronic mucocutaneous candidiasis and who showed a gradual response to long-term treatment with itraconazole.

Case report on torticolis

Congenital Muscular Torticollis (CMT) is a rare congenital musculoskeletal disorder. results from shortening or excessive contraction of the sternocleidomastoid (SCM) muscle. It presents in newborn infants or young children with incidence varies between 0.4 and 1.9%. Due to effective shortening of SCM on the involved side there is ipsilateral head tilt and contralateral rotation of the face and chin. This article reports a case of CMT in a 5 year-old female child successfully managed by surgical release of the involved SCM followed by physiotherapy.

Keratitis, ichthyosis, and deafness syndrome: a case report

A 10 year-old female child developed erythema on the scalp, perioral area, neck, trunk, buttocks, palms and soles within 1 month after birth. Her skin was dry and rough, and the hairs were fine, soft, sparse and easily broken. As age advanced, typical hyperkeratosis and thickening of the skin occurred on an erythematous base. At the age of 5 years, the child developed photophobia and vision impairment. When the child was 8 years old, progressive hearing loss was observed. Physical examination revealed that the height and weight were 109 centimeters and 19 kilograms respectively. Skin examination showed fine, soft, sparse and easily-broken hair, large areas of brown plaques with crusts on the scalp, perioral area, neck, trunk and buttocks, and fissured, purulent and foul-smelling verrucous hyperplasia over these plaques. Brown to black hyperkeratotic plaques were scattered over the extremities, and diffuse hyperkeratosis occurred on the palms and soles. Both fingernails and toenails became thickened, cloudy and white with distal separation and deformation of the nail plate. As ophthalmic examination showed, the patient had photophobia, bilateral bulbar conjunctival hyperemia, corneal opacity and corneal vascular proliferation, and the visual acuity was 0.5 in the left eye and 0.2 in the right eye. Otolaryngological examination revealed moderate binaural sensorineural deafness. Stomatological examination showed enamel hypoplasia and diastema widening. Genetic testing showed a heterozygous mutation (c.C50T) in exon 2 of the gap junction protein beta 2 (GJB2) gene. Based on these clinical manifestations and examinations, the patient was diagnosed with keratitis, ichthyosis, and deafness (KID) syndrome. Skin lesions of the patient were significantly improved after the treatment with oral acitretin. Key words: Keratosis; Mutation; Acitretin; Genes, GJB2; Keratitis, ichthyosis, and deafness syndrome

Orbital rhabdomyosarcoma

we report a case of orbital rhabdomyosa-rcoma in a 2.5 year-old female child.

Penetrating ocular fish hook injury: a case report.

Fishing is a popular rural recreational activity. Fortunately, penetrating ocular injuries with fish hooks are rare. These injuries are usually caused by fish hook prongs penetrating the ocular tissues. We report a rare case of penetrating fish hook injury to the globe and its successful surgical management. A 12- year-old female child was referred to the causality with a fish hook embedded in her right eye. She sustained the injury while fishing with her father. The fish hook had penetrated the globe obliquely. The hook was removed via its entrance wound under general anesthesia. Subsequently the child developed traumatic cataract which was operated with a final visual outcome of 6/12. Visual prognosis can be profoundly affected by the initial management. Prompt surgical intervention as done in our case is recommended to prevent significant visual loss. Keywords Fishhook; penetrating ocular injury; traumatic cataract.

Cardiac Tamponade: A Rare Presentation of Childhood Hypothyroidism.

Dear Editor, Myxedema heart disease is a well-known entity. Pericardial effusions have been reported in 50-73% of pediatric patients with hypothyroidism in various series (1, 2), but none of these describes the symptomatic pericardial effusions or cardiac tamponade. A 5- year-old female child presented with complaints of periorbital puffiness and mild abdominal distension intermittently for last 6 months. She was symptomatically treated with diuretics off and on without much benefit. This time she reported to pediatric emergency with progressively increasing respiratory distress for last 5 days. There was no history of any fever, decreased urine output, orthopnea, or Koch’s contact. She was third live issue of non-consanguineous marriage born by normal vaginal delivery following uncomplicated pregnancy. She was immunized for age with no significant family history. She had history of global development delay; development age corresponded to 3 years. On examination she was afebrile with HR of 70/min, RR of 44/min and BP of 80/60 mmHg with pulsus paradoxus. She had coarse facies with dilated neck veins. Her skin was dry and coarse. She had short stature with height less than 3rd centile and normal weight. Her cardiovascular examination revealed silent precordium. Her cardiac border was extending 1.5 cm beyond right sternal margin and 2 cm beyond apex beat on left side on percussion. Her heart sounds were muffled with no murmur. Her abdominal examination revealed free fluid in abdomen. Rest of systemic examination was normal. Chest X ray revealed massive cardiomegaly with CT ratio of 678%. Immediate ECHO done on urgent basis, revealed large pericardial effusion with collapse of right atrium during diastole with ejection fraction of 65% and intrinsically normal heart. ECHO guided pericardiocentesis drained 150 ml of fluid. The fluid was clear with 3.3 mg/dl of proteins, 110 mg/dl cholesterol, 20 RBC/µL, 14 lymphocytes/µL, 7 neutrophils/µL and rest of pericardial examination were normal. Rest of hematological and urinary examination was normal. Searching for tuberculosis was also negative. In view of features suggested of hypothyroidism on clinical examination and non infectious nature of pericardial fluid, her thyroid profile was done which was suggested of hypothyroidism with T3 = 0.92 nmol/L (1.39-3.7nmol/L), T4 = 3.2 µg/dl (5.5-12.8µg/dl), TSH= 40 mIU/L(0.7-6.4 mIU/L). Her anti TPO antibodies were negative and USG neck revealed mild enlargement of thyroid gland. She was started on L-thyroxine with dosage of 4 µg/kg/d. She responded to treatment with thyroid replacement and her pericardial effusion disappeared after 2 months on repeat ECHO. She is on regular follow up and showing improvement in each regards. Although mild to moderate pericardial effusions of no clinical significance are frequently reported in pediatric myxedema heart disease, but cardiac tamponade is rare. Literature reports only 2 adolescent girls with cardiac tamponade in association with hypothyroidism, but none has been reported in young children. Author reports a rare case of cardiac tamponade in a young child with previously unrecognized hypothyroidism. Besides bradycardia, minimal pericardial effusions are most common cardiac manifestations of clinical hypothyroidism in adults. Most of pediatric age group patients presenting with this belonged to neonatal period or to Down’s syndrome (1, 2). Myxedema heart disease was first described by Zondek in 1918 and was completely defined by Fahr in 1925 (3). The pathophysiological derangements responsible for pericardial effusions are increased egress of proteins from blood, decreased lymphatic clearance of proteins and abnormal electrolyte metabolism (4). At molecular level, commonly observed signs or symptoms in hypothyroidism are attributed to changes in expression of various gene products, which includes alpha myosin heavy chain, beta-1 adrenergic receptors, voltage gated potassium channels and sarcoplasmic reticulum calcium ATPase (5). The rarity of cardiac tamponade in hypothyroidism is attributed to slow accumulation of fluid and marked distensibility of pericardium (6). Alexander first described ‘Gold paint effusion’ to describe the golden brown appearance of pericardial fluid due shimmering satin cholesterol crystals (7). High cholesterol content of pericardial fluid have been attributed to disturbance of lipid metabolism; probably churning action of heart causing precipitation of cholesterol from pericardial fluid. Treatment of cardiac tamponade due to hypothyroidism involves urgent pericardiocentesis followed by thyroxine replacement. Treatment of pericardial effusion with thyroxine replacement leads to resolution of effusion in 2-12 months (5). In conclusion myxedema heart disease should be suspected in any child with symptoms suggestive of hypothyroidism, presenting with even hemodynamic-ally significant pericardial effusion or cardiac tamponade. Patients with hypothyroidism-associated pericardial effusion should be monitored for development of cardiac tamponade.

Spondylodiscitis Challenging Diagnosis in Immune Competent Child: A Case Report.

Spondylodiscitis, a combination of spondylitis and discitis, is an infection of the spine that involves the intervertebral disc and the vertebral body. Patients presented with little specific symptoms and suspicion for diagnosis is required. This report aimed to describe a female child patient with spondylodiscitis and to describe the diagnostic and therapeutic tools of such patient. This report recorded 2 year-old female child presented by fever, pain associated with standing and sitting, and 10 days history of refusal to walk in Prince Sultan Medical City, Riyadh, Saudi Arabia. Laboratory investigations as well as hip and knee ultrasound showed no abnormalities. However, and hip and lower back Magnetic Resonance Image (MRI) showed evidence of abnormal hyper intensity with enhancement of the bone marrow involving the vertebral bodies and adjacent endplates of 5th lumber (L5) and 1st sacral (S1) vertebrae with involvement of intervertebral disc space and paravertebral soft tissue component. Spondylodiscitis was suggested in the child, and conservative management by medical team of pediatrics and orthopedics consultant has immediately started. The treatment included antibiotics, non-steroidal analgesia and physical rehabilitation. The patient was completely evolved from condition within days. MRI taken 6 weeks later showed significant interval improvement of signs of spondylodiscitis, and the girl has been seen in the clinic after 4 months from discharge in good condition. Spondylodiscitis has to be considered in young children with acute ambulation changes. Prompt diagnosis and treatment involving the entire multidisciplinary team is emphasized in order to improve the prognosis of such patients.

Tuberous sclerosis with rhabdomyoma

Tuberous sclerosis is a neurocutaneous syndrome characterized by abnormalities of both the integument and central nervous system. We present a case of tuberous sclerosis with rhabdomyoma in the heart. This was a 1½-year-old female child with infantile spasms and rhabdomyoma in heart with mother having neurocutaneous markers of tuberous sclerosis. Magnetic resonance imaging brain and electroencephalography findings were consistent with diagnosis.