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Infantile Choroidocerebral Calcification Syndrome

Choroid Plexus Calcification with Mental Retardation


Presentation

  • Seizures may also occur. 26 Children and adults may present with headaches or subarachnoid hemorrhage. Patients presenting in the neonatal period typically have a worse prognosis than those presenting later.[jaocr.org]
  • […] or they present with only one area of involvment.[physio-pedia.com]
  • Dermoid (contd.)  CT:  appear as well defined low attenuating (fat density) lobulated masses.  Calcifications may be present in the wall.  Enhancement is uncommon, and if present should at most be a thin peripheral rim.  Very rarely they demonstrate[slideshare.net]
  • About this book Introduction This book presents the morphology of different non-tumoral lesions of the testis. By showing the differential diagnosis of each lesion, it offers clinicians vital support with diagnosis and treatment.[link.springer.com]
  • Presentation [ 5 ] Not all infants with facial naevi have SWS. Incidence of SWS has been reported to be 8-33% in those with a port-wine stain.[patient.info]
Physician
  • See also: encephalotrigeminal vascular syndrome, Jahnke syndrome. encephalotrigeminal angiomatosis Sturge, William Allen, English physician, 1850-1919.[medical-dictionary.thefreedictionary.com]
  • The partition…… Virginia Apgar Virginia Apgar, American physician, anesthesiologist, and medical researcher who developed the Apgar Score System, a method of evaluating an infant shortly after birth to assess its well-being and to determine if any immediate[britannica.com]
  • Intracranial complications are rare, but the physician should be aware of the possibility of epidural or subdural hemorrhage or the development of a leptomeningeal cyst over subsequent weeks.[glowm.com]
  • Infants usually come to the attention of their parents or physicians because of increasing head circumference either because of the presence of the mass or resultant hydrocephalus.[appliedradiology.com]
Vomiting
  • The coughing ends with the expulsion of clear, sticky mucus and often with vomiting.…… X-trisomy X-trisomy, sex chromosome disorder of human females, in which three X chromosomes are present, rather than the normal pair.[britannica.com]
  • […] progression Ventriculomegaly Nystagmus Renal potassium wasting Distal renal tubular acidosis Osteopetrosis Renal tubular acidosis Rickets Calcinosis Dehydration Nephrolithiasis Bilateral sensorineural hearing impairment Paralysis Metabolic acidosis Vomiting[mendelian.co]
  • Brain Tumors – signs and symptoms  Increased intracranial pressure - symptoms  Headache  Nausea/vomiting  Double vision  Head tilt  Decreased alertness  Lethargy/irritability  Poor feeding  Endocrine dysfunction  Unexplained behavior changes[slideshare.net]
  • Clinical symptoms include irritability, weak or high-pitched cry, vomiting, and pallor. On examination, the infant often is hypotonic with a tense fontanelle and may show an asymmetry of motor function. Seizures are frequent.[glowm.com]
Hemianopsia
  • […] veins, ispilateral leptomeningeal venous angioma, congestion in the cortical draining veins stasis, hypoxia, progressive atrophy, and dystrophic calcifications in the middle layers of the cortical gray matter, moya moya, AVM in Lu and Lv Eye: glaucoma, hemianopsia[learnneurosurgery.com]
Aphasia
  • Hemispheric Tumors – Clinical Features  Hemiparesis  Hemianopia  Aphasia  Seizures 11.[slideshare.net]
  • Acquired Epileptiform Aphasia. Laurence Moon Syndrome Leber Congenital Amaurosis Leber Hereditary Optic Neuropathy (LHON). Legius syndrome, NF1-like syndrome, Neurofibromatosis 1-like syndrome. Leigh Disease. Subacute Necrotizing Encephalomyopathy.[neurometplus.com]
Papilledema
  • Brain Tumors – Signs/Symptoms  Increased ICP – Signs  Papilledema, optic atrophy  Loss of vision  OFC (head circumference) increased  Bulging fontanelles, spreading sutures  “Setting sun” sign (Parinaud syndrome)  Increased blood pressure, low[slideshare.net]
Paresis
  • Cerebral palsy is a nonprogressive neurologic motor deficit (spasticity, dystonia, ataxia, paresis) from insults occured during prenatal/perinatal periods.[radnotes.co.nz]
Homonymous Hemianopsia
  • hemianopsia, glaucoma (20%) DDx: SAH, DVA, Rasmussen's encephalitis, gliomatosis, PML Tx: Conservative: seizures (carbamezapime 1st line), stroke prevention (ASA) Surgery: Hemispherectomy Indications: Intractable epilepsy with unilateral hemisphere damage[learnneurosurgery.com]

Treatment

  • The medical treatments available for the various aspects of SWS are addressed below. Treatment of Port Wine Stain Laser treatment is used to reduce port wine stains in children with SWS.[physio-pedia.com]
  • Surgical treatments Pulsed dye laser (PDL) treatment is used for port-wine stain: [ 10 ] This laser treatment is particularly effective in improving facial port-wine stains in infants 6 months of age. [ 11 ] This is often recommended for lesions near[patient.info]
  • Treatment of glaucoma in children with Sturge-Weber syndrome. J Pediatr Ophthalmol Strabismus. 2000;37:29–34. 74. Caprioli J, Strang SL, Spaeth GL, Poryzees EH. Cyclocryotherapy in the treatment of advanced glaucoma.[dovepress.com]
  • TREATMENT AND OUTCOME IN VGAMS Ideally the initial treatment of VGAM is conservative.[jnnp.bmj.com]
  • “Deep brain stimulation as an effective treatment option for post-midbrain infarction-related tremor as it presents with Benedikt syndrome”. Journal of Neurosurgery . 109 (4): 635–639. doi : 10.3171/JNS/2008/109/10/0635 . PMID 18826349 .[checkrare.com]

Prognosis

  • The worst prognosis was thus seen, as expected, in the babies with the largest shunts, presenting as neonates with severe cardiac failure.[jnnp.bmj.com]
  • INI-1 loss, but no rhabdoid features and good prognosis.[librepathology.org]
  • As might be expected, studies have found that cortical volume analysis (representing cortical atrophy) on MRI correlates well with impairment and prognosis.[patient.info]
  • Conservative treatment is advocated in the stable neonate. 24 The prognosis of an infant with subdural hemorrhage depends on the degree of hemorrhage.[glowm.com]
  • Desmoplastic Infantile Ganglioglioma  form of desmoplastic infantile tumours  tend to have good prognosis  vast majority occur in children less than 1 year of age  M:F ratio of approximately 2:1  rapidly increasing head circumference is the most[slideshare.net]

Etiology

  • (Fig. 11) Conventional angiography may help elucidate the etiology and be utilized for embolization with coils or glue.[jaocr.org]
  • It shows the main etiologic cerebral infarcts are not always well explored. Indi aspects.[books.google.com]
  • Etiology, Diagnosis, and Presentation Hydrocephalus in the pediatric population is characterized by an initial increase in intraventricular pressure, resulting in pathologic dilation of the cerebral ventricles with an accumulation of cerebrospinal fluid[pedsinreview.aappublications.org]
  • Etiologies of developmental facial paralysis include Mobius syndrome, hypoplasia of the depressor anguli oris muscle, and hemifacial macrosomia.[glowm.com]
  • The etiologic agent may be known if the mother was exposed to an infectious agent or had a symptomatic infection.[mrineonatalbrain.com]

Epidemiology

  • This update contains new epidemiological data and modifications to existing data for which new information has been made available.[docplayer.net]
  • Epidemiology Incidence is 1/50,000 live births. Males and females are equally affected. There is no racial predilection. Presentation [ 5 ] Not all infants with facial naevi have SWS.[patient.info]
  • Rare diseases leading to childhood glaucoma: epidemiology, pathophysiogenesis and management. Biomed Res Int. 2015;2015:781294. 41. Izzotti A, Saccà SC, Bagnis A, Recupero SM.[dovepress.com]
Sex distribution
Age distribution

Pathophysiology

  • […] signification worked out study than one exclusively devoted to a of imaging and magnetic resonance imaging, which limited number of scientific papers. will perhaps allow us to detect ischemic edema in the After a brief clinical and pathophysiological[books.google.com]
  • Objectives After completing this article, readers should be able to: Understand basic pathophysiology related to hydrocephalus and available treatments. Recognize presenting signs and symptoms of hydrocephalus.[pedsinreview.aappublications.org]
  • Pathophysiology Neuroectodermal origin: The structure is similar to normal choroid plexus, and it is formed of epithelial cells.[ispn.guide]
  • Both the degree of myelination and the presence of excitatory amino acid binding sites also may play a role in the pathophysiology of tissue damage. 6 The primary lesions seen on autopsy in term newborns are in the cortex and basal ganglia (Fig. 1).[glowm.com]
  • Armed Forces Institute of Pathology, Washington, DC, 1977, pp 284-300 Frenkel JK: Pathophysiology of toxoplasmosis. Parasitol Today 4:273-278, 1988 Frenkel JK: Toxoplasmosis. In: Connor DH, Chandler FW (eds) Pathology of Infectious Diseases.[isradiology.org]

Prevention

  • […] elevated petrous bone, large frontal sinus Sx: seizures, MR, hemisensory loss, hemiparesis, homonymous hemianopsia, glaucoma (20%) DDx: SAH, DVA, Rasmussen's encephalitis, gliomatosis, PML Tx: Conservative: seizures (carbamezapime 1st line), stroke prevention[learnneurosurgery.com]
  • It is rare that CIMT is used in the adult population living with SWS; CIMT is, instead, used during childhood to promote use of the involved extremities and prevent neglect.[physio-pedia.com]
  • Other syndromes such as Cornelia de Lange may have gastrointestinal problems associated with them which may require special diets or medicines to prevent more serious conditions from developing.[tsbvi.edu]
  • SPECIFIC ORGANISMS Group B streptococcus (GBS) GBS is a partially preventable, but unfortunately common etiologic agent of neonatal meningitis.[mrineonatalbrain.com]
  • In most cases this is not severe enough to prevent the use of clinically useful drugs in the acute setting, but may affect subsequent treatment choices. 13.[fayllar.org]

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