Clinical Manifestations and Developmental Milestones Summary

Digestive Tract Signs and Symptoms

Digestive Tract (Signs/Symptoms): Odynophagia / dysphagia, indigestion / aerophagia / bloating / heartburn, nausea / vomiting, constipation / diarrhea, melenas / rectal bleeding, jaundice / hepatomegaly / splenomegaly, ascites.

Nephrourological Pathology Findings

Pathology Nephrourological: >150 mg/day proteinuria, >3.5 g/day massive proteinuria, hematuria, azotemia, oliguria / anuria, polyuria, nocturia / dysuria, incontinence / wetting, hydro-electrolytic / acid-base problems.

Hormone Classification

Hormones: Polypeptides (hypothalamic, pituitary, insulin, glucagon), steroids (adrenal / sexual), amines / tyrosine derivatives (thyroid and NT).

• Adenohypophysis: Growth Hormone (H. crecimiento), prolactin, melanocyte-stimulating hormone (MSH), FSH, LH, TSH, ACTH.
• Neurohypophysis: Antidiuretic Hormone (ADH), oxytocin.
• Thyroid: T3 (active), T4.
• Parathyroid: Parathyroid hormone, calcitonin.
• Adrenals: Cortex: Glomerulosa (mineralocorticoids), Fasciculata (glucocorticoids/androgens), Medulla (catecholamines).

Hematuria Etiology

Hematuria: Isolated: Urologic cause (calculi). With urinary tract infections (urethritis, cystitis). Kidney causes (proteinuria and normally associated with cylinders): glomerulonephritis, vasculitis.

Duchenne Muscular Dystrophy (DMD)

Duchenne: More frequent in 1/3500 newborn boys. X chromosome-linked autosomal recessive. Onset after 3 years with frequent falls and progressive weakness. Gowers' sign appears at 5–6 years. Difficulty climbing stairs. Calf hypertrophy. Achilles tendon contractures (toe walking). Cardiac effects by 6–7 years. Loss of ambulation by 9–10 years. Scoliosis develops. Life expectancy does not exceed 20–30 years. Elevated muscle enzymes (CPK). EMG: myopathic pattern. Muscle biopsy: absence of dystrophin protein in muscle fibers. Gene (DYS) on the X chromosome. Treatment: Physiotherapy, orthopedic support, respiratory support, cardiac management.

Vaccination Calendar

Vaccine Calendar:

• 2 months: Quadruple (diphtheria, pertussis, tetanus, *Haemophilus influenzae* type b) + Oral Polio.
• 4 months: Quadruple.
• 6 months: Quadruple.
• 12–13 months: MMR (Measles, Mumps, Rubella).
• 18 months: Quadruple + Oral Polio.
• 5 years: Diphtheria-Tetanus-Polio booster.
• 11 years: MMR booster.
• 12 years: Oral Polio, Tetanus (booster every 10 years thereafter).
• Meningococcal C: <1 year: 3 doses / two months apart. >1 year: 1 dose.

Psychomotor Development Milestones

Neural Psychomotor Development:

• Stages:
• 1 min: Elevates head in prone position.
• 3 min: Cephalic control, supports with pronated forearms.
• 6 min: Rolls over, maintains sitting position momentarily.
• 8 min: Stable sitting position.
• 9–10 m: Starts moving/crawling.
• 11 m: Sits alone, walks holding hands.
• 12–16 M: Walks independently.
• 15–18 m: Runs, walks without aid.
• 24 m: Jumps, climbs stairs (no alternating feet).
• 36 m: Pedals tricycle, walks on tiptoes.