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Congenital myotonia (Thomsen disease) is inherited delayed muscle relaxation/stiffness after contraction; treat by mexiletine/quinine, exercise.
儿科综合Dopa-responsive dystonia (Segawa disease) is childhood-onset dystonia/parkinsonism with dramatic low-dose levodopa response; treat by low-dose levodopa.
儿科综合Neonatal purulent meningitis is bacterial meningitis in neonates (GBS/E. coli/Listeria): fever/irritability/full fontanelle/seizures; treat by IV antibiotics for 2-3 weeks.
小儿内科Childhood autism is pervasive developmental disorder with impaired social interaction/communication and restricted/repetitive behavior, onset before 3 years; treat by early behavioral/educational intervention.
儿科综合Speech/language developmental disorder is delayed/impaired speech/language acquisition (expressive/receptive) not due to hearing/neurologic cause; treat by speech/language therapy.
儿科综合Neuronal ceroid lipofuscinosis (Batten disease) is inherited lysosomal storage disease: progressive myoclonic epilepsy, vision loss, dementia, motor decline; childhood forms fatal; supportive.
儿科综合Niemann-Pick disease is sphingomyelinase deficiency (type A/B) or cholesterol-trafficking defect (type C): hepatosplenomegaly, neurodegeneration, cherry-red macula; enzyme/ supportive care.
小儿内科Amino-acid metabolism disorders are inborn errors of amino-acid catabolism/transport (PKU, MSUD, homocystinuria, urea-cycle defects): neurotoxicity, metabolic crisis; newborn screening and metabolic diet.
小儿内科Maple-syrup urine disease is branched-chain alpha-ketoacid-dehydrogenase deficiency: sweet-smelling urine, encephalopathy, neurodegeneration; newborn screening; restrict branched-chain amino acids.
儿科综合PKU is autosomal-recessive PAH deficiency causing phenylalanine accumulation: intellectual disability, musty odor, fair skin, seizures; newborn screening; low-phenylalanine diet lifelong.
小儿内科Neonatal rickets is congenital/early-onset vitamin-D-deficiency bone disease in infants of vitamin-D-deficient mothers: craniotabes, hypocalcemic tetany; treat by vitamin-D and calcium supplementation.
儿科综合Di George syndrome (22q11.2 deletion) is a congenital thymic/parathyroid hypoplasia from 3rd/4th pharyngeal-arch developmental failure: cardiac outflow-defect, hypocalcemia, facial anomalies, T-cell deficiency, immune deficit.
儿科综合Langerhans-cell histiocytosis (LCH), formerly histiocytosis, is a group of idiopathic histiocyte-proliferative disorders. Traditionally 3 clinical types: Letterer-Siwe disease (L-S), Hand-Schuller-Christian disease (H-S-C), and eosinophilic granuloma of b
儿科综合HFMD is mainly caused by enteroviruses (Cox A16 and EV71 most common). Late summer/early autumn peak (September), children <5 years. Symptoms: oral pain, anorexia, drooling, low fever, small vesicles/ulcers on hands/feet/mouth/buttocks. Uncomplicated case
儿科综合Exanthem subitum (sixth disease/roseola) is an acute exanthematous childhood infection caused by HHV-6/7. Clinical: high fever 3-4 days then abrupt defervescence with rash; rash fades in hours, gone in 2-3 days, no desquamation/pigmentation. Good prognosi
儿科综合Syphilis is a systemic infection caused by Treponema pallidum, divided into acquired and congenital forms. Acquired (adult) syphilis is mainly sexually transmitted in 3 stages. Congenital (prenatal) syphilis is transplacental, causing stillbirth/preterm b
儿科综合Pertussis (whooping cough) is an acute respiratory infection caused by Bordetella pertussis, characterized by paroxysmal spasmodic cough ending in a crowing inspiratory whoop. The course lasts weeks to ~3 months, hence the name. Mostly under-5s; infants r
小儿内科Neonatal tetanus is an acute infection caused by Clostridium tetani entering via the umbilicus, usually onset around day 7 of life; features are generalized skeletal muscle rigidity/trismus, hence called umbilical wind, seventh-day wind, or locked-jaw win
小儿内科Diagnosis and treatment of medical diseases in children under 14 years of age, covering respiratory tract infections, digestive system diseases, neonatal diseases and management of chronic childhood conditions.
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