Nephrology, Neuro, Ortho, Endo Flashcards
What is antenatal hydronephrosis?
- Congenital dilation of kidney
- Detected by prenatal routine US
Treatment of antenatal hydronephrosis
-Controversial
What is prenatal US most useful for?
Detection of obstructive uropathy - significant risk of neonatal demise due to pulmonary hypoplasia (Potter’s syndrome)
Describe Potter’s syndrome
- Kidneys fail to develop (and they usually produce amniotic fluid)
- Decreased fluid
- Head collides with uterine wall
- Facial features (flattened nose, recessed chin, prominent epicanthal folds, low set ears)
Clinical presentations of obstructive uropathy
- UTIs
- Failure to thrive
Presence of hydronephrosis and presence of urinary obstruction
Hydronephrosis does NOT necessarily indicate presence of urinary obstruction
Post-natal management of obstructive uropathy
- FU US
- Abx prophylaxis
Who is MC affected by primary nocturnal enuresis?
Strong family history
What is used as a justification for not treating primary enuresis?
Resolution rate is approx 15% per year
Labs for primary nocturnal enuresis
- Morning U/A to eval concentration
- Urine culture and sensitivity if U/A suggests cystitis
How must the U/A be performed in evaluation of primary nocturnal enuresis?
- On a concentrated urine specimen
- Dilute UA with SG under 1.010 might not reveal infection
Treatment of primary nocturnal enuresis
- Behavioral
- Alarm therapy
- DDAVP, anticholinergics, tricyclics
- ENT if signs of obstructive breathing
- Ultimately, time
What is ultimately the best treatment of primary enuresis?
Time!
Clinical presentation of HUS
- Prodromal gastroenteritis (83%)
- Progressive renal failure a/w microangiopathology
- Hemolytic anemia
- Thrombocytopenia
- HTN (47%)
Etiology of HUS
Predominantly occurs in infants/children after prodromal diarrhea (E coli infection MC)
Clinical presentation of Henoch Scholein Purpura
- Prodrome: HA, anorexia, fever
- MC subsequent symptoms: rash (95-100% pts), abd pain and vomiting (35-85%), joint pain (60-84%)
What is West syndrome?
- Severe epilepsy syndrome
- Consists of a triad: infantile spasms (Shalom), hypsarrhythmia EEG, mental retardation
What are Shalom seizures?
- Infantile spasms
- Part of West syndrome
- Sudden, rapid, tonic contraction of trunk and limb musculature
Warning signs of pediatric brain tumor
- HA that awakens child or worse in AM/night
- NV
- Changes in speech, vision, hearing
- Problems w/balance
- Changes in mood, personality or ability to concentrate
- Problems with memory
- Seizures
What is pseudotumor cerebri?
Idiopathic intracranial HTN (unknown etiology)
Possible causes of pseudotumor cerebri?
- Exposure to or withdrawal from certain drugs (Vit A in infants)
- Systemic diseases (e.g. Lyme)
- Certain endocrine or metabolic diseases
Who is MC affected by pseudotumor cerebri?
Obese women of child bearing age
Clinical presentation of pseudotumor cerebri
- Papilledema
- HAs
- Diplopia
- Pulsatile tinnitus
- Radicular pain
Treatment of pseudotumor cerebri
- Pharm (acetazolamide, furosemide, HA proph, steroids)
- Optic nerve sheath fenestration (decompression)
- CSF diversion via shunt
Clinical presentation of NF-1
- Cafe au lait lesions
- Gliomas, spinal cord tumors, vascular lesions, long bone abnormalities
Clinical presentation of NF-2
- Minimal cutaneous findings
- Relative high incidence of meningiomas and acoustic neuromas
Which type of NF presents with cafe au lait lesions?
NF-1
Diagnosis of NF-1
2 of 7 required and many may not appear until childhood/adolescence
- 6 or more cafe au lait spots
- Axillary or inguinal freckles
- 2 or more neurofibromas (or 1 plexiform neurofibroma)
- Optic nerve glioma
- 2 Lisch nodules (iris hamartomas)
- Long bone abnormalities
- First degree relative with NF-1
Diagnosis of NF-2
- Bilateral vestibular schwannomas
- First degree relative
- Any 2 of: neurofibroma, meningioma, glioma, schwannoma
Describe cutaneous manifestations of NF-2
- Less common than NF-1
- Plexiform neurofibromas are UNUSUAL
- Cafe au lait spots tend to be fewer and lighter
- Axillary and inguinal freckling is not present
- Schwannomas occur on peripheral nerves (palpable spherical nodules)
What is Von Hippel-Lindau disease?
- Autosomal dominant neurocutaneous dysplasia complex
- Symptoms begin in 2-3 decades of life
Clinical presentation of Von Hippel-Lindau disease
- Ocular signs d/t retinal hemorrhage, detachment, glaucoma, uveitis
- HAs, ataxia, blindness
- Hemangioblastomas
What is tuberous sclerosis?
- Autosomal dominant disorder
- Non-malignant tumors form in many different organs
How does tuberous sclerosis present?
Multi-systemic
- Cutaneous: ash leaf spots, Shagreen patch, angiofibromas
- Neuro: seizures, intracranial calcifications
- Retinal, renal, pulm, MSK manifestations
What are ash leaf spots and what are they a/w?
- Congenital hypopigmental macules
- Tuberous sclerosis (87% have lesions at birth)
What is Shagreen patch and what is it a/w?
- CT nevus most often in lumbosacral region or trunk
- Diagnostic for Tuberous sclerosis
What are angiofibromas and what are they a/w?
- Firm, smooth, red to pink papules consisting of hyperplastic blood vessels and collagen
- Occur on nasolabial folds, cheeks, chin
- Diagnostic for tuberous sclerosis (usually appear by 4-10 yo)
What is often the first presenting sign of tuberous sclerosis?
Seizures (focal or generalized including infantile spasms)
What are cortical tubers?
- Potatolike nodules of glial proliferation occurring anywhere in cortex, ganglia, ventricle walls
- Characteristic for tuberous sclerosis
What are infants with a white forelock often later diagnosed with?
Tuberous sclerosis
What is Sturge-Weber syndrome?
Disorder characterized by facial port-wine stains and leptomeningeal vascular angiomatosis
What is a/w port-wine stains?
Sturge-Weber syndrome
-Usually involves V1 and V2 divisions of trigeminal nerve
Size of port-wine stain?
Does NOT predict neuro sequelae
Neuro complications of Sturge-Weber syndrome
- Can begin as early as 5 mo with partial motor seizures
- Most appear later in childhood and are CONTRALATERAL to the nevus
What do skull radiographs show in Sturge-Weber syndrome?
Classic tram-track calcification (curved double outlines of parieto-occipital cortex)
Treatment of Sturge-Weber syndrome
- V1 port wine stain leads to ophtho complications (refer)
- Laser treatment to avoid soft tissue swelling and hypertrophy
- Antiepileptics for seizures
- Surgery for pts w/medically refractory epilepsy
What is ataxia-telangiectasia?
- Autosomal recessive disorder
- Progressive cerebellar ataxia, oculocutaneous telangiectasia, recurrent viral/bacterial infections
Cutaneous manifestations of ataxia-telangiectasia
- Telangiectasias first develop on bulbar conjunctiva and ears around 3-6 yo
- Later on, they appear on flexor surface of arms, eyelids, malar area of face, upper chest
Neuro manifestations of ataxia-telangiectasia
- Cerebellar ataxia
- Choreic and athetoid movements
- Progressive nystagmus
- Intelligence may be normal early on but progressively deteriorates
What is Rendu-Osler-Weber syndrome?
- Autosomal dominant d/o involving mucus membranes
- Tendency for bleeding
- 20% pts unaware of family history bc lesions may be minimal and may have no episodes of bleeding
Clinical presentation of Rendu-Osler-Weber syndrome
- Spontaneous, recurrent epistaxis (90%)
- Skin telangiectases (75%)
- Hepatic or pulm involvement (AVMs, 30%)
- GI bleeding (15%)
- CNS lesions (8-12%)
Causes of limp in toddlers (1-3 yo)
- Infectious/inflammatory
- Trauma
- Developmental dysplasia of the hips
- Cerebral palsy and congenital hypotonia
- Abuse
Causes of limp in children 4-10 yo
- High energy injuries (fx, dislocations, ligamentous)
- Infections
- Rheumatoid conditions
- Neoplastic lesions
Causes of limp in adolescents 11 or older
- Slipped capital femoral
- Arthritis
- STIs
- Trauma
Sequences of birth defects
- Malformation (intrinsic malformation exists in embryo)
- Deformation (abnormal external mechanical or structural force)
- Disruption (healthy embryo is subjected to tissue breakdown or injury)
Describe vascular/avascular bone cysts
- Benign osteoblastic tumor
- Osteoid rich origin (unmineralized, organic portion of bone matrix)
Where do vascular/avascular bone cysts occur?
Cortex of long bone shafts (80-90% cases)
Treatment of vascular/avascular bone cysts
- NSAIDs
- Surgery (9-28% recurrence)
What is a unicameral bone cyst?
Common, benign, fluid-filled lesion almost exclusively in children
Presentation of unicameral bone cyst
- Most present after sustaining a pathologic fracture
- UE (lower stress) vs LE (higher stress)
Treatment of unicameral bone cyst
- Asymp lesion w/satisfactory cortical thickness may require only observation
- Cortical thinning may require surgery
- Younger children are more amenable to cast immobilization
Prevalence rates of JRA
- Oligoarticular (30%)
- Polyarticular RF negative (20%)
Prognosis of JRA
- Improved over last 20 yrs d/t early use of intra-articular steroids, MTX, biologics
- Polyarticular disease may have problems w/active disease throughout adulthood
What is mucopolysaccharidosis?
- Defective activity of lysosomal enzymes
- Blocks breakdown of mucopolysaccharides
- Leads to abnormal accumulations
Clinical presentation of mucopolysaccharidosis
- CNS disease
- CV (angina, valve dysfunction, HTN, CHF)
- Pulm (airway obstruction)
- Optho (corneal clouding, glaucoma)
- Hearing impairment
- MSK (short, joint stiffness)
