Because pigment is required for normal neuronal development

3-per-second spike and wave on EEG (particularly with hyperventilation)

Absent Ankle Reflex

Extensor Plantar Response (Toes upgoing)

Gait ataxia (Cerebellar signs)

Friedreich Ataxia

AR inheritance

Presents latter half of 1^st decade

Cardiomyopathy in 50%

Infantile Spasms

Abnormal and characteristically random interictal EEG

Distal Weakness (esp. Lower Ext.) [STORK LEG]

Absent Proprioception (Romberg positive)

Hyporeflexia

High stepping gait

Later, Wasting of intrinsic hand muscles

Werdnig-Hoffman

(Spinal Muscular Atrophy)

Diffuse, symmetric proximal weakness (LE>UE)

Chronic progressive respiratory insufficiency

Mutation in SMN gene on chromosome 5

Autosomal Recessive

Hypotonia (with poor feeding)

Short Stature

Hypogonadism

Small hands/feet

Cognitive delay

Low Calcium

Low Phosphorus

High Alk Phos

High PTH

Vitamin D-Deficient Rickets

or

Vitamin D-Dependent Rickets (def of renal tubular enzyme that converts 25-D₃ to 1,25-D₃

Tx: Administration of Vitamin D₃

if Vit-D Dependent Rickets, will not respond and need daily administration of 1,25-D₃

Normal Calcium

Low Phosphorus

Normal or Elevated PTH

Hypophosphatemic Rickets (Vit D-Resistant Rickets)

Tx: Phosphate Supplementation and 1,25-D₃

• Increases Calcium
• Increased mobilization from bone (Ca and Phos)
• Decreased excretion in kidney
• increased Ca reabsorption w/ Phosphorus wasting
• Increased Ca absorption in Gut
• Decreases Phosphorus (wasted to increase Ca reabsorption)
• Increased 1,25-D₃ [calcitriol] from 25-D₃ in kidney (which in turn increases gut absorption of Ca)

Hypocalcemia

Hyperphosphatemia

Calcitriol (1,25-D₃) Deficiency

Note: hypomagnesemia impairs PTH secretion and action

Almost always either:

SLE

PSGN

MPGN

Recurrent Infections

Eczema

Thrombocytopenia

Wiskott-Aldrich Syndrome

X-Linked Recessive

Encapsulated organisms (e.g. S. pneumo and H. flu)

Neonatal cholestasis

Paucity of Bile Ducts on micro (<0.5 ducts/portal triad)

Alagille Syndrome (arteriohepatic dysplasia)

• Pulmonic Stenosis, TOF
• Butterfly Vertebrae
• Interstitial nephritis, glomerular disease
• Prominent forehead, hypertelorism
• Developmental Delay or MR
• Low-Birth Weight

Deficiency

• Corneal Damage

Deficiency

• Rickets
• Hypocalcemia

Deficiency

• Ataxia
• Peripheral Neuropathy
• Ophthalmoplegia

Deficiency

• Coagulopathy

Microcephaly

Thrombocytopenia

Intracerebral calcifications (periventricular)

CMV

May also have chorioretinitis, but more common with congenital Toxoplasmosis

Chorioretinitis (Focal)

Cerebral Calcifications (parenchymal)

Hydrocephalus

Congenital Toxoplasmosis

Tx is pyrimethamine and sulfadiazine

• Toxoplasmosis (parenchymal calcifications)
• CMV (periventricular calcifications)

• Toxoplasmosis (more common)
• CMV

• Rubella
• Syphilis (T. pallidum)

• Rubella
• Toxoplasmosis (less likely)

• Syphilis (T. pallidum)
• Rubella and Toxo less likely

• Rubella
• Syphilis

Jaundice

Abdominal Mass

Abdominal Pain

DAILY:

100 mL/kg for the first 10kg

50 mL/kg for the second 10kg

20 mL/kg for each additional kg (until 80kg)

Hourly, this can be estimated as:

4 mL/kg for the first 10kg

2 mL/kg for the second 10kg

1 mL/kg for each additional kg

V_dist(Na) is 0.6 x body weight

V_dist(Na) x [Na] = V_dist(total) x 140

V_dist(total) - V_dist(Na) = Deficit

OR

V_dist(Na) x [Na]/140 = V_dist(total)

Maintenance Electrolyte Amounts

(K, Na, Cl)

• K = 1 mEq/kg/day
• Na = 2 mEq/kg/day
• Cl = 3 mEq/kg/day

Fractional Excretion of Na

(FE_Na)

FE_Na = (Ur_Na x P_Cr/Ur_Cr x P_Na) x 100

FE_Na of <1% is indicative of Dehydration

FE_Na of >1% in indicative of Acute Renal Insufficiency