Presentation
Occipital encephaloceles present as masses overlying the occiput or posterior neck. [dermatologyadvisor.com]
Prepare for the USMLE Step 1 with clinical case presentations, highlighted in special boxes, that demonstrate how embryology concepts relate to clinical practice. [books.google.de]
Joubert syndrome was first reported in 1969 as a rare, recessive autosomal syndrome associated with neuropathological abnormalities of the cerebellum and brain stem, partial or complete aplasia of the cerebellar vermis, and presenting with episodic hyperpnea [ncbi.nlm.nih.gov]
[…] tomography (CT) of the head indications when neurologic impairment is present when there is concern for a skull fracture studies diagnostic criteria usually a clinical diagnosis differential caput succedaneum cranial meningocele treatment conservative [medbullets.com]
Entire Body System
- Inflammation
Hernia of brain with rapid growth of swelling and risk of complications (inflammation or rupture of thinning tissue) is necessary to be operated in first days after birth. [iliveok.com]
Normal anatomy can be distorted by growth of the lesion as well as recurrent inflammation. Preoperative imaging should include CT or MRI of the head to delineate the anatomy of the lesion. [dermatologyadvisor.com]
Musculoskeletal
- Small Head
Some of the symptoms seen in this condition include hydrocephalus (build up of CSF in the brain), paralysis of the limbs, microcephaly (small head size), ataxia (uncontrolled muscle movement), delayed growth and development, convulsions and vision problems [news-medical.net]
Symptoms may include neurologic problems, hydrocephalus (cerebrospinal fluid accumulated in the brain), spastic quadriplegia (paralysis of the limbs), microcephaly (an abnormally small head), ataxia (uncoordinated muscle movement), developmental delay [en.wikipedia.org]
Face, Head & Neck
- Hypertelorism
The facial deformities are almost always present, and they found characteristics include hypertelorism, median nasal fissure, widened nasal base, cleft lip or palatal, syndrome of the cleft facial medial or bifid cranium occult frontal (8,9). [arquivosdeorl.org.br]
Such encephaloceles are often associated with hypertelorism, midline craniofacial dysraphism, agenesis of the corpus callosum, interhemispheric lipoma, or heterotopias. [20] Sphenoidal encephaloceles are usually clinically occult and appear in the first [emedicine.medscape.com]
[…] thorax, cleft palate, vertebral abnl Knoblock Autosomal Recessive None Meckel Autosomal Recessive Dyspastic kidneys, polydactyly, hydrocephalus, cleft palate, heart defects, liver cysts Roberts Autosomal Recessive Short or absent limbs, facial cleft, hypertelorism [fetalsono.com]
Frontonasal dysplasia (median facial cleft syndrome, OMIM 136760) includes a constellation of features, such as cranium bifidum occultum frontalis (Fig. 1.19), widow's peak hairline, ocular hypertelorism, and variable nasal defects, ranging in severity [rrnursingschool.biz]
Characteristic findings on physical examination Physical examination shows a bluish, soft, compressible mass in the midline of the nasal root, or intranasally with possible distortion of surrounding facial features such as hypertelorism ( Figure 1, Figure [dermatologyadvisor.com]
Neurologic
- Hyperactivity
Attention deficit disorder without hyperactivity also has been described in these children. Hydrocephalus is present in 85% but bears little relationship to intelligence. [emedicine.medscape.com]
Workup
Isolated coccygeal dimples do not require further workup or treatment. FIGURE 9 Benign coccygeal dimple within the gluteal cleft and overlying the tip of the coccyx. [pediatrics.aappublications.org]
The workup for a Chiari I malformation should include a brain MRI to rule out a secondary Chiari I malformation and a complete spine MRI to rule out syrinx and tethered cord. Tx: Posterior fossa decompression and duraplasty. [sites.google.com]
Treatment
[…] disorders across the lifespan (pediatric, adult, and geriatric populations) Includes interventions and methods of treatment for the outcomes patients may experience [books.google.de]
Make informed clinical choices for each patient, from diagnosis and treatment selection through post-treatment strategies and management of complications, with new evidence-based criteria throughout. [books.google.com]
Treatment of meningocele and encephalocele is only surgical in operable cases. [iliveok.com]
Surgery of encephalomeningocele (cranium bifidum) for correction of atlanto-occipital craniocervical junction and other defects Surgery for the treatment of craniostenosis, using a one- or two-stage approach Cranioplasty with prostheses or bone grafts [meditar.com]
[…] galea aponeurotica) and under the skin presentation physical exam swelling above the scalp that may be erythematous, petechiae, and ecchymosis studies diagnostic criteria usually a clinical diagnosis differential cephalohematoma iatrogenic encephalocele treatment [medbullets.com]
Prognosis
[…] may be associated with brain malformations that can have an effect on the prognosis. [chw.org]
Treatment and prognosis The prognosis is variable depending on the presence of associated anomalies and presence of microcephaly (carries a much poorer prognosis). [radiopaedia.org]
The prognosis is better, especially when they are < 5 cm in diameter, do not contain dysplastic or brain tissue, and when they are not associated with hydrocephalus or other anomalies. 8 Our patient, who had presented in adulthood, thus had a better prognosis [appliedradiology.com]
Prognosis Prognosis is favorable for life with surgical treatment. However, according to foreign statistics, mortality from secondary complications can reach 10 % even with perfect surgical treatment. [iliveok.com]
The prognosis of occipital encephalocele. Z Kinderchir 28:347-35,1979 Fleming AD, Vintzileos AM, Scorza WE. [fetalsono.com]
Etiology
With easy-to-read, in-depth descriptions of disease, disease etiology, and disease processes, Pathophysiology: The Biologic Basis for Disease in Adults and Children, 7th Edition helps you understand the most important and the most complex pathophysiology [books.google.com]
Etiology Subtypes and variants Diagnostics Prenatal screening Elevated levels of alpha-fetoprotein ( AFP ) in amniotic fluid at 13–15 weeks' gestation Fetal ultrasonography at 20 weeks' gestation CT scans and cranial ultrasonography (in infants ) to monitor [amboss.com]
The child with a cephalocele: etiology, neuroimaging, and outcome. Childs Nerv Syst 1996; 12 (9) 540-550 2 Lumenta CB, Di Rocco C, Haase J, Mooij JJA. European Manual of Medicine–Neurosurgery. [thieme-connect.com]
Etiology Pathophysiology The key underlying event in the development of meningoceles, encephaloceles and gliomas is faulty closure of the anterior neuropore. [dermatologyadvisor.com]
The etiology is controversial. [fetalsono.com]
Epidemiology
Definition Epidemiology References: [1] [2] Epidemiological data refers to the US, unless otherwise specified. [amboss.com]
EXTENSIVELY Updated content reflects advances in pathophysiology including tumor biology invasion and metastases, the epidemiology of cancer, diabetes mellitus, insulin resistance, thyroid and adrenal gland disorders, female reproductive disorders including [books.google.com]
(Caput succedaneum) Introduction Clinical definition an impairment in the function or structure of the neonates body secondary to an adverse birth event Epidemiology incidence approximately 2% location soft tissue extracranially intracranially fractures [medbullets.com]
Epidemiological studies have demonstrated multifactorial influences underlying NTDs. Variations in incidence have been seen across geographical variation, ethnic groups, socioeconomic status, and genetic predisposition. [emedicine.medscape.com]
Epidemiology [ edit ] Encephaloceles occur rarely, at a rate of one per 5,000 live births worldwide. [en.wikipedia.org]
Pathophysiology
With easy-to-read, in-depth descriptions of disease, disease etiology, and disease processes, Pathophysiology: The Biologic Basis for Disease in Adults and Children, 7th Edition helps you understand the most important and the most complex pathophysiology [books.google.com]
[…] position forceps or vacuum assisted device prognosis infant mortality secondary to birth trauma has significantly decreased Cranial Injuries Caput succedaneum clinical definition edematous scalp swelling above the periosteum that crosses the suture lines pathophysiology [medbullets.com]
Yoursry I, Förderreuther S, Moriggl B,Holtmannspötter M, Naidich TP, et al. (2001) Cervical MR Imaging in postural headache: MR sings and pathophysiological implications. AJNR 22:1239-1250. [omicsonline.org]
Etiology Pathophysiology The key underlying event in the development of meningoceles, encephaloceles and gliomas is faulty closure of the anterior neuropore. [dermatologyadvisor.com]
Normal Embryology and the Pathophysiology of Spinal Cord Tethering Dysraphic CNS malformations arise during the second, third, and fourth weeks of human embryogenesis, generally referred to as the period of neurulation. [pediatrics.aappublications.org]
Prevention
Prevention of neural tube defects: results of the Medical Research Council Vitamin Study. 332 ページ - Crane JP, LeFevre ML, Winborn RC, et al. [books.google.com]
Prevention Periconceptional folate supplementation has a strong protective effect against NTDs. [ 11 ] Supplementation must begin before conception for it to be effective. [ 12 ] To prevent a first occurrence, women who are planning to become pregnant [patient.info]
Getting enough folic acid during pregnancy has been shown to help prevent the condition. [healthline.com]