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Nervous system
Published in David Sturgeon, Introduction to Anatomy and Physiology for Healthcare Students, 2018
US neuroscientists Roger Sperry and Michael Gazzaniga performed a number of experiments on individuals whose corpus callosum had been removed (split-brain patients). One of the experiments involved presenting one object to the left eye and a different object to the right eye. The split-brain patient was then asked to place their left hand under a screen and draw what they had observed with their left eye. When asked to explain the picture, however, they always described what they had seen with their right eye. This and other experiments helped to demonstrate that without the corpus callosum, the left and right hemispheres are unable to communicate with each other. Agenesis of the corpus callosum is a rare congenital disorder where the corpus callosum is partially or totally absent at birth. Typical characteristics associated with this condition may include visual and hearing impairment, poor motor coordination, difficulty with abstract reasoning, misinterpretation of non-verbal communication and poor perception of pain. The most notable person to have agenesis of the corpus callosum was Kim Peek (1951–2009) who became famous as the inspiration for the character Raymond Babbitt in the film Rain Man. Peek had an exceptional memory and was able to read two pages of a book simultaneously. He read one page with his left eye and the other with his right and it took him about ten seconds in total.
Neuroanatomical and Neurobehavioral Effects of Heavy Prenatal Alcohol Exposure
Published in John Brick, Handbook of the Medical Consequences of Alcohol and Drug Abuse, 2012
Agenesis of the corpus callosum is estimated to occur in 0.3 percent of the general population and in 2.3 percent of the developmentally disabled population (Jeret et al., 1986). In a sample of children in San Diego with FAS or PEA, the estimated incidence of complete agenesis of the corpus callosum was 6.8 percent (3 out of 44 children) (Riley et al., 1995). In addition to complete agenesis of the corpus callosum, other abnormalities such as partial agenesis or hypoplasia of the corpus callosum have been observed (Clark et al., 2000; Riikonen et al., 1999; Swayze et al., 1997) (see Figure 6.3). Corpus callosum abnormalities, even complete agenesis, are not unique to FAS, but rather have been observed in multiple developmental and genetic disorders including ADHD (Hynd et al., 1991), mental retardation (Schaefer et al., 1991), and Down’s syndrome (Wang et al., 1992).
Clefts and craniofacial
Published in Tor Wo Chiu, Stone’s Plastic Surgery Facts, 2018
The cranial deformity is most commonly turribrachycephaly due to BCS. There is raised ICP in ~43%; however, mental disability is common (~50%) even in the absence of raised ICP, presumably due to primary brain abnormality, and surgery does little to affect the mental disability. Ventriculoperitoneal shunting is often needed. Other associated features are as follows: Paronychial infections during infancy.Acne especially over forearms.Vertebral fusions C5–6, hemivertebrae, butterfly vertebrae.Dysplasia of shoulder and elbow.Polycystic kidneys and cardiopulmonary abnormalities.Mid-face hypoplasia (more severe than Crouzon). The craniofacial features are more asymmetric than Crouzon (Turvey TA, 1996).Class III malocclusion with prominent mandible, high narrow arched palate; 30% have CP.Unusual speech associated with a long soft palateOrbital proptosis (exorbitism), anti-Mongoloid slant and hypertelorism.Some extraocular muscle palsiesFlat face and short parrot beak nose.Low set ears and conductive hearing loss.Hydrocephalus 30%.Agenesis of the corpus callosum.
Nonketotic Hyperglycinemia: Two Case Reports and Review
Published in The Neurodiagnostic Journal, 2019
Rajesh P. Poothrikovil, Khalid Al Thihli, Amna Al Futaisi, Fathiya Al Murshidi
The second patient is a male born to consanguineous parents at 41 weeks of gestation through induction of labor. The patient had good Apgar scores (nine at 1 min and 10 at 5 min) and birth weight (3.2 kg; 7 lbs.). He was transferred from a peripheral hospital for the management of intractable seizures. Soon after birth, it was reported that the patient was inactive with a poor cry and poor feeding efforts with frequent left-sided twitching of the face and abnormal movements of the left upper limb. Subsequently, prolonged seizures were noted and the patient was put on anti-epileptic medications. The patient had mild dysmorphic features such as down-slanting eyes, micrognathia and prominent long thumbs with a family history of epilepsy and sudden infantile death. On day nine, the patient developed central apnea and cyanosis and required intubation and ventilation for 8 days in the neonatal intensive care unit. First EEG was performed at an age of 8 weeks showed multifocal spikes and polyspikes over both hemispheres with mild to moderate asymmetry and asynchrony. Intermittent suppressive epochs were also noted in this record (Figure 7). Flash VEP with LED goggles and BAEP studies were within normal limits. MRI brain showed agenesis of the corpus callosum. Biochemical genetic study (amino acid analysis) at an age of about 2 months showed an elevated CSF: plasma glycine ratio (0.18), which is suggestive of NKH. The patient was started on sodium benzoate and ketamine.
The current clinical approach to difficult-to-treat basal cell carcinomas
Published in Expert Review of Anticancer Therapy, 2023
Eugenia Veronica Di Brizzi, Giuseppe Argenziano, Gabriella Brancaccio, Camila Scharf, Andrea Ronchi, Elvira Moscarella
NBSCS is characterized by the onset of multiple BCCs beginning in childhood, localized on all body areas, both photo-exposed and not. Other manifestations of NBSCS BCNS include palmoplantar pits, skeletal abnormalities, calcification of the falx cerebri, distinctive facial features, rare predisposition to medulloblastoma, undescended testes, hydrocephalus, strabismus, congenital cataracts, nystagmus, blindness from coloboma, and glaucoma. Agenesis of the corpus callosum and intellectual disability are rare. A multidisciplinary approach is needed in patients affected by nevoid basal cell carcinoma syndrome. Patients can be practicing the skin examination every 4 to 6 months in order to assess the onset of new lesions for diagnose and treat BCCs at early stage.
Measurement of Fetal Mesencephalon and Pons Via Ultrasonographic Cross Sectional Imagining
Published in Fetal and Pediatric Pathology, 2018
Ruiqi Yang, Rui Li, Xuejuan Liu, Limei Fan, Jialing Zhang, Libo Wang, Hong Teng
Dysplasia of the corpus callosum can be classified as agenesis, partial formation, or hypoplasia (9). There were 3 abnormalities of the corpus callosum, 2 with agenesis, and a 3rd with partial agenesis, and all which were below 5% errors. In our study, two fetuses presented agenesis of the corpus callosum, one of which was with colpocephaly (PHLV, posterior horn of lateral ventricle) = 12 mm and one case of partial agenesis of the corpus callosum presented with a PHLV = 11 mm. Their MAD, MTD, PAD, and PTD values fell below the 95% confidence intervals' lower limits for the corresponding maternal GA. The third case had the PAD and PTD values falling below the 95% confidence interval's lower limits for the corresponding maternal GA.