Infantile idiopathic intracranial hypertension: case report and review of the literature

Background Idiopathic intracranial hypertension is an infrequent condition of childhood, and is extremely rare in infants, with only 26 cases described. The etiology is still unknown. Typical clinical manifestations change with age, and symptoms are atypical in infants, thus the diagnosis could be late. This is based on increased opening pressure at lumbar puncture, papilloedema and normal cerebral MRI. The measurement of cerebrospinal fluid opening pressure in infants is an issue because many factors may affect it, and data about normal values are scanty. The mainstay of treatment is acetazolamide, which allows to relieve symptoms and to avoid permanent visual loss if promptly administered. Case presentation We report the case of an 8-month-old infant admitted because of vomit, loss of appetite and irritability; later, also bulging anterior fontanel was observed. Cerebral MRI and cerebrospinal fluid analysis resulted negative and after two lumbar punctures he experienced initial symptom relief. Once the diagnosis of idiopathic intracranial hypertension was made, he received oral acetazolamide, and corticosteroids, with progressive symptom resolution. Conclusions Infantile idiopathic intracranial hypertension is extremely rare, and not well described yet. Bulging anterior fontanel in otherwise healthy infants with normal neuroimaging should be always considered suggestive, but can be a late sign, while irritability and anorexia, especially if associated with vomiting, may represent an early sign. In such cases, lumbar puncture should be always done, hopefully with cerebrospinal fluid opening pressure measurement, which is among coded diagnostic criteria, but whose threshold is controversial in infants. Early diagnosis, timely treatment and strict follow-up help to prevent vision loss or death of affected infants.

Dermoid Cyst in the Anterior Fontanel: Case Report

Introduction: Dermoid cysts in the anterior fontanel are rare lesions, problems around 0.1–0.5% of all cranial tumors. It originated during the early stages of development and derived from embryonic epithelial tissue located along the midline. CT and NMR studies are of choice to rule out intracranial extension. They are diagnosed and treated with surgery in childhood. In this article, a review of the literature on this pathology is performed and a clinical case is reported in order to show the results of imaging studies in the Dermoid Cyst in childhood. Case Presentation: Four-month-old female infant with Dermoid Cyst in the Anterior Fontanelle, without neurological compromise who was once a surgery. The surgical piece affected uniform, encapsulated, mobile, soft lesion with clear content. The obstetric history, clinical data, physical examination, imaging and histopathological studies confirmed the diagnosis of Dermoid Cyst, the patient’s postoperative evolution is satisfactory, currently undergoing follow-up by Neuropediatrics. Conclusion: in simple pediatric patients with Dermoid Cyst in the anterior Fontanelle, simple Computerized Axial Skull Tomography is very useful for its diagnosis, as well as the performance of surgical treatment and postoperative follow- up for a favorable evolution and better prognosis. Keywords: dermoid cyst, anterior fontanelle, congenital inclusion cyst, case report. RESUMEN Introducción: La frecuencia de presentación del Quiste Dermoide en fontanela anterior es muy baja y se desarrollan en la etapa embrionaria de la vida en la que el tejido embrionario de la línea media dá lugar a su formación. Los estudios de TAC y RMN son de elección para descartar la extensión intracraneal. Se diagnostican y tratan con cirugía en la niñez. En este artículo se realiza una revisión de la literatura sobre esta patología y se relata un caso clínico con el objetivo de mostrar los resultados de estudios imagenológicos en el Quiste Dermoide en la infancia. Presentación de Caso: Lactante femenina de cuatro meses con Quiste Dermoide de la fontanela anterior sin complicaciones fue intervenida quirúrgicamente. Se realizó excéresis de lesión blanda, encapsulada y movible. Los antecedentes obstétricos, datos clínicos, examen físico, estudios imagenológicos e histopatológico confirmaron el diagnóstico de Quiste tipo Dermoide, la evolución posoperatoria de la paciente es satisfactoria, actualmente en seguimiento por Neuropediatría. Conclusiones: En pacientes pediátricos con Quiste Dermoide en la Fontanela anterior es de gran utilidad la Tomografía Axial Computarizada simple de Cráneo para su diagnóstico, así como, la realización de un tratamiento quirúrgico y el seguimiento postoperatorio para una favorable evolución y mejor pronóstico. Palabras clave: quiste dermoide, fontanela anterior, quiste de inclusión congénita, informe de caso.

Subdural Hygroma- A Case Report

Introduction: An accumulation of Cerebrospinal fluid in subdural spaces is known as subdural hygroma. It is encountered in all age-groups but overall, most common in elderly. The exact pathogenesis of Subdural Hygroma is still unclear. Presentation of Case: A 03 months old female child was brought to Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha, Maharashtra, India on date 02/10/2020 with the complaints of breathing difficulty, elevated body temperature, excessive enlargement of head with bulged and tense fontanel, high pitch shrill cry, restlessness, nausea and vomiting. On physical examination, it is found that head circumference was 44 cm, head size was enlarged, bulged anterior fontanel, angular cheilitis, pale conjunctiva as well as peripheral cyanosis were present. The child was diagnosed at birth and child was brought to Acharya Vinoba Bhave Rural Hospital, Sawangi (Meghe), Wardha for surgical management of subdural hygroma. Intervention: The treatment of patients was started immediately after admission.Burr-Hole Evacuation was done on 4th October 2020 and the patient was discharged on 08th October 2020. Conclusion: In this report, we mainly focus on expert surgical management and excellent nursing care helped in managing the complicated case very nicely. The patient response was positive to conservative and nursing management. The patient was discharged without postoperative complications and satisfactory with recovery.

Anterior Fontanel Size Among Term Newborns: A Systematic Review and Meta-Analysis

Background: Anterior fontanel is an integral element of an infant craniofacial system. There are six fontanels in the newborn skull, namely anterior, posterior, two mastoid, and two sphenoid fontanels. The anterior fontanel is the largest, prominent, and most important for clinical evaluation. Sex, race, genetics, gestational age, and region are the principal factors that influence anterior fontanel size. There exist inconclusive findings on the size of anterior fontanel in newborns. Therefore, this systematic review and meta-analysis aimed to determine the pooled mean size of anterior fontanel among term newborns and to identify the pooled mean difference of anterior fontanel size between males and females.Methods: PubMed/Medline, Google Scholar, Science Direct, JBI Library, embase, and Cochrane Library databases were systematically searched. All essential data were extracted using a standardized data extraction format. The heterogeneity across studies was assessed using the Cochrane Q test statistic, I2 test statistic, and p-values. A fixed-effect model and random effect model were used to estimate the pooled mean size of anterior fontanel and the pooled mean difference between male newborns and female newborns, respectively. To deal with heterogeneity, sub-group analysis, meta-regression analysis, and sensitivity analysis were considered. JBI quality appraisal checklist was used to evaluate the quality of studies.Results: In this meta-analysis, 8, 661 newborns were involved in twenty-six studies. Among studies, 13 conducted in Asia, 7 in Africa, 5 in America, and 1 in Europe. The pooled mean size of anterior fontanel was 2.58 cm (95% CI: 2.31, 2.85 cm). The pooled mean size of anterior fontanel for Asia, Africa, America, and Europe region was 2.49, 3.15, 2.35, and 2.01 cm, respectively. A statistically significant mean difference was detected between male and female newborns (D + L pooled MD = 0.15 cm, 95% CI: 0.02, 0.29 cm).Conclusion: The pooled estimate of this review does provide the mean value of the anterior fontanel size in the newborns. There was a statistically significant mean fontanel size difference between male and female newborns. Therefore, male newborns had a significantly larger mean size than female newborns.

Pediatric skull bone defect due to epidermoid cyst

Background<br />Tumors of the skull usually affect adult patients and less than twenty percent of pediatric patients. As the tumors grow, the surrounding bone may undergo destruction and erosion. When the tumors are located in the fontanel, the timely closure of the fontanel may be inhibited. Epidermoid cysts are benign tumors that are intracranially located and very rarely in the midline of the cranium. Meanwhile about 32% of stratified-squamous epithelial epidermoid cysts affect the head and neck region and only 6.7% occur in the scalp. We report an unusual epidermoid cyst located and growing in the anterior fontanel of a pediatric patient and inhibiting fontanel closure.<br /><br />Case Description <br />A 21-month-old boy and his parents visited our polyclinic because there was a lump on his anterior fontanel since four months before they came to the hospital. The lump was initially the size of a peanut and had grown to become as large as a quail’s egg. The physical examination was normal and the brain CT-scan showed bone destruction without any intracranial lesion. The tumor was excised on the preoperative diagnosis of dermoid cyst. Histopathology examination showed the characteristics of an epidermoid cyst. The cyst had a wall and was full of keratin flakes without hair follicles or sebaceous glands. Follow-up one year after complete excision did not reveal any recurrence. <br /><br />Conclusion<br />Epidermoid cysts in the skull of pediatric patients must be completely excised as soon as possible because their growth can damage the bone and inhibit the closure of the sutures.

Extended Cranial Ultrasound Views in Infants with Acute Brain Stem/Infratentorial Lesions: Diagnosis of a Progressive Midline Glioma in a 6-Week-Old Infant

Central nervous system (CNS) tumors are the most common solid tumors in children and adolescents. However, in neonates and children aged younger than a year, they are very rare. Clinical presentation in neonates is often subtle and nonspecific. When neurological symptoms are apparent at this age, cranial ultrasound (CUS) is often done as the initial evaluation, with a standard approach through the anterior fontanel (AF), followed by further imaging, such as magnetic resonance imaging (MRI), if necessary. We report the first neonatal case of a rapidly progressive diffuse midline glioma positive for histone H3 K27M mutation (World Health Organization [WHO] grade IV) in which using extended (transmastoid) CUS studies through the mastoid fontanelle (MF) in the second month of life defined the lesion in the brainstem.

Phenotype and variations associated with the deletion of the 1q44 cytoband and the pathogenic duplication in the 9q32q34.3 cytobands

​The advance in the human genetic field has permitted to identify small chromosome alterations and associate them to a specific phenotype. However, there are many mutations that have not yet been described in the literature. We describe the clinical case of a term newborn with appropriate weight to its gestational age, without perinatal background of interest that, at birth, presented: macrocephaly, hypertelorism, low-set ears, prominent forehead, micrognathia, camptodactyly, bilateral cryptorchidism, inspiratory stridor with the cry, multifocal systolic murmur, wide anterior fontanel and hypotonia of mixed characteristics and in whom a deletion of the 1q44 cytoband and a pathogenic duplication in the 9q32q34.3 cytoband were detected. We perform a review of the literature.