Turner syndrome (gonadal dysgenesis – 45,X) is a condition in which a female is partly or completely missing an X chromosome.
Signs and symptoms
Girl with Turner syndrome before and immediately after her operation for neck-webbing – Wikipedia Image
Short stature
Lymphedema of the hands and feet of a newborn
Broad chest and widely spaced nipples
Protruding ears (low set ears)
Low Posterior hairline
Reproductive sterility
Rudimentary ovaries gonadal streak (underdeveloped gonadal structures that later become fibrotic)
Amenorrhoea
Increased weight, obesity
Shortened metacarpal IV
Small fingernails
Characteristic facial features
Webbed neck
Aortic valve stenosis
Coarctation of the aorta
Bicuspid aortic valve
Horseshoe kidney
Nonverbal learning disability (problems with math, social skills, and spatial relations)
Points
Turner’s syndrome is not typically associated with central nervous system malformations or intellectual disability, although they may have some mild learning disabilities. Intellectual disability (Mental retardation) is seen in 6% of affected children.
Chromosome analysis – A karyotype test will reveal chromosome profile to be 45,XO
Tx
Growth hormone therapy – for short stature
Estrogen – induce secondary sexual characteristics
Granulomatosis with Polyangiitis (GPA) is a rare multisystem autoimmune disease. Typically, the upper and lower respiratory tract and the kidneys are affected, but it may affect any organs.
Small vessel vasculitis
granulomatous inflammation of vessels
Signs and symptoms
VASCULITIS: FEVER – MALAISE – WEIGHT LOSS – ARTHRALGIA/MYALGIA
Recurrent respiratory infection in adults
Sinusitis
Epistaxis
Otitis media
Mastoiditis
Rhinitis
Nasal ulcers
Pulmonary nodules
Pulmonary infiltrates
Hemoptysis
Hematuria
Glomerulonephritis
Renal failure
Other: Joint, eye, skin lesions
Saddle nose deformity
Goodpasture syndrome is similar to GPA, however nasal lesions and sinusitis could not be found in Goodpasture syndrome.
Dx
The best initial test: C-ANCA (+ve) Cytoplasmic antineutrophil cytoplasmic antibody (c-ANCA)
Accurate test: Biopsy
CXR: pneumonitis, pulmonary nodules ( “coin lesions”) and infiltrations
Ranulas are mucoceles that can be seen in the floor of the mouth results from an injury to the duct of salivary glands, usually the major salivary glands. Ranulas present as a swelling of connective tissue consisting of collected mucin. Ranulas may be asymptomatic.
Treatment
Incision and drainage
Ranula excision
Marsupialization
Complete excision of the ranula with the sublingual gland
Urinary Tract Infections are caused by bacteria in children. Infants, toddlers and younger children are more vulnerable to UTI if their urinary system is having structural abnormalities.
Vesicoureteral reflux (VUR) – Abnormal backflow of urine from the bladder into the ureters/kidneys.
Bacteria in the lower urinary tract can easily be spread by reflux to the upper tract, leading to recurrent infection with potential scarring and renal dysfunction.
Grading
Grade I – reflux into non-dilated ureter (results in urine reflux into the ureter only)
Grade II – reflux into the renal pelvis and calyces without dilatation
Grade III – mild/moderate dilatation of the ureter, renal pelvis and calyces with minimal blunting of the fornices
Grade IV – dilation of the renal pelvis and calyces with moderate ureteral tortuosity
Grade V – gross dilatation of the ureter, pelvis and calyces; ureteral tortuosity (twisting); loss of papillary impressions (severe hydronephrosis)
X chromosomes in males. Apart from 47,XXY there also 48,XXXY and 49,XXXXY types exist. This is called as variants of Klinefelter syndrome. Klinefelter syndrome is a form of primary testicular failure, with elevated gonadotropin levels due to lack of feedback inhibition by the pituitary gland.
Findings
tall, slim, underweight
long limb
gynecomastia
lack of facial hair (Androgen Deficiency)
antisocial and aggressive behavior
infertility due to hypogonadism (Small atrophic testes)
Treatment for infertility: microsurgical testicular sperm extraction (TESE) and the use of freshly retrieved sperm for in-vitro fertilization (IVF)
Men with Klinefelter syndrome are at a higher risk of autoimmune diseases, diabetes mellitus, leg ulcers, osteopenia and osteoporosis, tumors (breast and germ cells), systemic lupus erythematosus, rheumatoid arthritis, and Sjögren syndrome
A-a Gradient or Alveolar-arterial PO2 difference – measure of the difference between the alveolar concentration (A) of oxygen and the arterial (a) concentration of oxygen. The A-a Gradient can help determine the cause of hypoxia.
Assesment of oxygenation
valid only on room air
increase with age
Causes of increased (A-a) difference:
COPD
Atelectasis
Pneumonia
Pulmonary edema
Asthma
Pneumothorax
ARDS
Interstitial Lung disease
Increase in all cases of hypoxemia, except hypoventilation and high altitude.
Reye’s syndrome is encephalopathy combined with hepatic fatty infiltration which usually begins shortly after recovery from an acute viral illness, especially influenza and varicella (chickenpox) in a child who has recently had aspirin or salicylates.