[…] pediatric neurology evolved as an identified specialty as the volume and complexity of data became too much for the general pediatician or the adult neurologist to master, the discipline has now continued to evolve into so many subspecialties, such as epilepsy [books.google.com]

Galactosyl ceramide beta galactoside def Metachromatic leukodystrophy Hexosaminidase A and B def Chronic progressive external ophthalmoplegia Kearns-Sayre LHON Leigh's MELAS (mitochondrial encephalopathy with lactic acidosis and stroke) MERRF (myoclonic epilepsy [quizlet.com]

Conductive Stapedial, with Ear Malformation and Facial Palsy OMIM:221300 Deafness, Conductive, with Malformed External Ear OMIM:221320 Deafness, Conductive, with Ptosis and Skeletal Anomalies OMIM:220300 Deafness, Congenital, and Familial Myoclonic Epilepsy [informatics.jax.org]

oral pyridoxine in a dosage of 5 mg per kg per day) if rare disorders such as pyridoxine-dependent epilepsy are clinically suspected by the consulting neurologist. [aafp.org]

Severe malnutrition seen in weight-conscious women (low protein, high water intake diet) is a special condition in which a markedly decreased intake of solutes occurs, which limits the ability of the kidney to handle the free water. [emedicine.medscape.com]

While he has a firm, irregular, normal sized liver, he has no stigmata of chronic liver disease such as jaundice, palmar erythema, spider nevi, prominent abdominal veins, or ascites. [adc.bmj.com]

EARLY INFANTILE, 14; EIEE14 Early infantile epileptic encephalopathy-14 is a severe neurologic disorder characterized by onset in the first 6 months of life of refractory focal seizures and arrest of psychomotor development. [mendelian.co]

The presence of isolated hyperintense signals in basal ganglia (globus pallidi) was very useful in the evaluation of the structural changes in posticteric bilirubin encephalopathy. [pediatricneurosciences.com]

Signs of ornithine transcarbamylase deficiency in infant boys include severe emesis, hyperammonemia, and progressive encephalopathy. [aafp.org]

Mucopolysaccharidoses Neuronal ceroid lipofuscinoses Sphingolipidoses Galactosyl ceramide beta galactoside def Metachromatic leukodystrophy Hexosaminidase A and B def Chronic progressive external ophthalmoplegia Kearns-Sayre LHON Leigh's MELAS (mitochondrial encephalopathy [quizlet.com]

HIV Encephalitis with progressive encephalopathy. 41. HIV Encephalitis [slideshare.net]

[…] disturbance Flexion contracture Oculogyric crisis Retrocollis Young adult onset Abnormal posturing No social interaction Craniofacial dystonia Personality disorder Focal dystonia Torsion dystonia Limb dystonia Dysphonia Torticollis Inability to walk Apraxia [mendelian.co]