Presentation
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]
Occipital encephaloceles present as masses overlying the occiput or posterior neck. [dermatologyadvisor.com]
Each entry follows a 5 section structure that will cover (1) essential features of the disorder (2) physiological basis of the disorder (3) neuropsychological and other clinical presentation (4) assessment and diagnostic practices (5) evidence-based treatments [books.google.de]
The clinical manifestations, when present, in part, depend on the age of the patient. [arquivosdeorl.org.br]
Present On Admission POA Help "Present On Admission" is defined as present at the time the order for inpatient admission occurs — conditions that develop during an outpatient encounter, including emergency department, observation, or outpatient surgery [icd10data.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]
Before we discuss treatment of cerebrospinal fluid rhinorrhea and sinus/anterior skull base defects we will need to review some definitions: Cerebrospinal fluid (CSF) leak - Extravasation of the fluid normally contained in the ventricles of the brain, [arizonasinus.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]
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]
The prognosis of occipital encephalocele. Z Kinderchir 28:347-35,1979 Fleming AD, Vintzileos AM, Scorza WE. [fetalsono.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]
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]
The etiology is controversial. [fetalsono.com]
Etiology Pathophysiology The key underlying event in the development of meningoceles, encephaloceles and gliomas is faulty closure of the anterior neuropore. [dermatologyadvisor.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]