Case 1 The child is 7 months old. Complaints: poor weight and height gain, poor appetite, intermittent vomiting, unstable stool. From the anamnesis: The child from the first pregnancy, the pregnancy was uneventful. Childbirth at 39 weeks, without complications. Birth weight - 3300g, height - 53 cm. Until 3 months, he was breastfed, with 3 months on artificial feeding with an adapted and non-adapted mixture. On examination: Consciousness is clear. Annoying, restless sleep. There is general weakness, a decrease in interest in the environment. The skin is pale, jams in the corners of the mouth. The subcutaneous fat layer is absent on the abdomen, trunk, thinned on the extremities. The skin fold in the navel is 0.4-0.5 cm, the Chulitskaya index is -5 cm. Skin elasticity and tissue turgor are reduced. Actual weight - 6150g, Acting weight - 8200g. Height - 64.5 cm. Muscle tone is reduced. The abdomen is enlarged, swollen. Liver + 2.5 cm. Stool unstable, often liquefied. There is a lag in psychomotor development: does not sit, does not stand on its feet. General blood analysis: Hb -105 g/l, RBC - 3,5 g/l, ЦП-0,8, Ht- 38%, WBC –5,0*109/l, Eosinophil - 2% , NEUT - 58%, MON - 2%, LYMPH- 38%, ESR - 8 mm/h. Ultrasound of the abdominal organs - no structural changes. EchoCG -without features. 1. Formulate and justify the diagnosis 2.What are the exogenous and endogenous causes of this disease? 3. Give diet therapy to this child Case 2 A 5-month-old boy is admitted to the hospital with his mother's complaints of sudden anxiety, a shrill cry with stopping breathing for a few seconds. At the same time, the child turned pale, cold sweat appeared on the face and torso, cyanosis near the mouth. The attack lasted 1 minute, after which was a deep sonorous breath and the child's condition returned to normal. From the anamnesis: The child was born in November, at 36 weeks of gestation, an Apgar score of 6-7 points. It is known that the child is unwanted in the family, there are defects in care. At the age of 4 months, the boy was diagnosed with "Rickets of the II degree of severity, peak period, acute course" and prescribed treatment, but his mother did not follow the doctor's instructions. Objectively: The skin is pale, tissue turgor is reduced. The subcutaneous fat layer is moderately developed. The muscle tone is reduced, the abdomen is spread out, "froglike". The head is square, the frontal and parietal tubercles are pronounced. Baldness and flattening of the occiput, a large fontanel 2.5 * 2.3 cm, the edges of the fontanel are soft, pliable, palpation of the bones of the skull reveals soreness and softening of areas in the occipital bone. The ribcage is pliable, the lower aperture expands, a "Harrison's groove" is formed. Complete blood count: Hb - 102 g / l, RBC - 3.6x1012 / l, WBC - 7.5x109 / l, seg/neut.- 32%, eosis - 2%, lymph - 59%, mon - 7%, ESR - 9

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protein energy malnutrition dystrophy infant diagnosis classification diet therapy

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rickets spasmophilia laryngospasm infant diagnosis treatment

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Case 1 — 7-Month-Old with Failure to Thrive

1. Diagnosis and Justification

Diagnosis: Protein-energy malnutrition (Dystrophy, Hypotrophia Grade II), mixed feeding etiology, with iron deficiency anemia of mild-moderate degree.

Justification by Criteria:

Degree of malnutrition (Grade II Hypotrophia):
ParameterFindingSignificance
Actual weight6150 gExpected (norm) ~8200 g
Weight deficit(8200 - 6150) / 8200 × 100% = 25%20–30% deficit = Grade II
Height64.5 cm (norm ~67–68 cm)Slight height lag
Skin fold (umbilicus)0.4–0.5 cmSeverely reduced (norm >1.5 cm)
Chulitskaya (nutritional) index−5 cmNormal is +20 to +25 cm; negative = Grade II–III
Subcutaneous fatAbsent on abdomen/trunk, thinned on limbsSubcutaneous fat depleted in stages: abdomen first, then trunk, then limbs, then face (Grade II = absent on abdomen & trunk)
Supporting clinical features:
  • Pale skin, angular cheilitis (jams in corners of mouth) — nutritional deficiency
  • Reduced skin elasticity and tissue turgor
  • Muscle hypotonia, enlarged/distended abdomen
  • Hepatomegaly (+2.5 cm) — reactive or fatty infiltration
  • Psychomotor developmental delay (does not sit/stand at 7 months — norm is sitting at 6 months)
  • Unstable/liquefied stool — impaired gut function
  • Irritability, poor sleep, reduced environmental interest
Anemia (mild–moderate hypochromic):
  • Hb 105 g/L (norm >110 g/L for age), RBC 3.5 × 10¹²/L, Color index 0.8 (hypochromic), Ht 38%
  • Consistent with iron deficiency anemia secondary to nutritional deficiency and artificial feeding

2. Exogenous and Endogenous Causes

Exogenous Causes (External/Nutritional/Social)

  • Quantitative underfeeding — insufficient caloric intake
  • Qualitative underfeeding — use of non-adapted (unsuitable) formula from 3 months; non-adapted mixtures lack the correct protein/fat/carbohydrate balance for infants
  • Early discontinuation of breastfeeding at 3 months
  • Improper preparation of formula (incorrect dilution)
  • Infectious causes — recurrent GI infections leading to malabsorption
  • Defects in care and feeding regimen — irregular feeding, inadequate hygiene

Endogenous Causes (Child-side/Pathological)

  • Malabsorption syndromes — celiac disease, cystic fibrosis (though abdominal ultrasound was normal, functional malabsorption is still possible)
  • Congenital anomalies of the GI tract (pyloric stenosis, gastroesophageal reflux)
  • Chronic infectious disease (recurrent infections in early life)
  • Constitutional/metabolic factors — enzyme deficiencies, lactase deficiency
  • CNS pathology — impaired swallowing or sucking reflex
  • Premature birth / intrauterine growth restriction (though this child was born at term with normal weight, this is not primary here)
  • Immunodeficiency states
In this case, the dominant cause is exogenous: early discontinuation of breastfeeding combined with use of a non-adapted formula, leading to protein-energy deficit over 4+ months.

3. Diet Therapy

Diet therapy for Grade II Hypotrophia follows three phases:

Phase 1: Determination and Minimal Feeding (Days 1–3)

The gut is compromised; begin with reduced volume to assess tolerance.
  • Calculate required calories based on actual weight first
  • Begin with 2/3 of the required volume, using only preferred foods (breast milk or adapted formula — switch immediately from non-adapted to adapted formula)
  • Number of feedings: increase to 7–8 feedings/day (every 3 hours) with reduced volume per feed
  • Volume on Day 1: ~2/3 of norm → ~560 mL/day
Norm caloric intake at 7 months: 110 kcal/kg/day × actual weight → 110 × 6.15 kg = 676 kcal/day

Phase 2: Cautious Increase (Days 4–7)

  • Gradually increase volume daily by 20–30 mL per feeding
  • Achieve full volume by day 5–7
  • Continue on adapted formula (e.g., NAN, Nutrilon, Similac)
  • Introduce complementary feeds appropriate for 7-month-old:
    • Vegetable puree (zucchini, cauliflower, potato) — already due at 6 months
    • Porridge (rice, buckwheat, corn, gluten-free) — on water or adapted formula
    • Meat puree (turkey, rabbit) — begin after stabilization

Phase 3: Enhanced (Reparative) Nutrition

  • Calculate calories based on due (proper) weight = 8200 g
  • Protein: 3–3.5 g/kg/day (due weight) — use cottage cheese (tvorog), meat
  • Calories: 120–130 kcal/kg of actual weight
  • Continue vitamin supplementation: A, B-complex, C, D
  • Iron supplementation for anemia: elemental iron 3–5 mg/kg/day (e.g., Sorbifer, Maltofer drops)
  • Enzyme replacement if malabsorption present: Creon/Pancreatin with meals
  • Probiotics to restore gut flora (Lactobacillus, Bifidumbacterin)

Sample Daily Diet at 7 Months (Repair Phase):

TimeFeeding
06:00Adapted formula 180 mL
09:30Buckwheat/rice porridge 150 g + adapted formula 50 mL
13:00Vegetable puree 150 g + meat puree 30 g + adapted formula
16:30Fruit puree 60 g + adapted formula 100 mL
20:00Adapted formula 180 mL
23:00Adapted formula 180 mL
Total calories target: ~900–1000 kcal/day (toward due weight correction)


Case 2 — 5-Month-Old Boy with Sudden Anxiety, Shrill Cry, Apnea, Cyanosis

1. Diagnosis and Justification

Primary Diagnosis: Rickets, Grade II severity, peak period, acute course. Complication: Spasmophilia, manifest form — Laryngospasm attack.

Justification:

Rickets (confirmed from anamnesis, Grade II):
  • Born in November (winter — minimal UV exposure)
  • Premature at 36 weeks (higher risk)
  • Apgar 6–7 (perinatal compromise)
  • Non-compliant with prescribed treatment
  • Unwanted child, defects in care (poor nutrition, likely vitamin D deficiency)
Clinical signs of rickets (Grade II):
FindingSignificance
Square head, prominent frontal/parietal tuberclesCraniotabes + frontal/parietal bossing = active rickets
Large fontanel 2.5 × 2.3 cm, soft/pliable edgesDelayed fontanel closure, bone softening
Occipital bone softening and sorenessCraniotabes — classic Grade II rickets
Baldness of occiput (alopecia)Sweating from autonomic dysfunction in rickets
"Harrison's groove"Horizontal depression along costal insertions of diaphragm
Flared lower chest apertureChest deformity from softened ribs
"Frog abdomen"Muscle hypotonia
Reduced tissue turgor, muscle hypotoniaSystemic effect of vitamin D deficiency
Grade II criteria: skeletal deformity present (skull + chest), moderate severity.
Spasmophilia — Laryngospasm (manifest form):
Spasmophilia is a syndrome of increased neuromuscular excitability due to hypocalcemia and alkalosis (associated with active rickets and vitamin D deficiency). It occurs typically in spring when UV exposure increases, rapidly converting 25-OH-D to 1,25-OH-D, shifting calcium into bone and dropping serum calcium.
Classic laryngospasm features — all present:
  • Sudden onset of anxiety + shrill (crowing) cry
  • Apnea for seconds (inspiratory spasm of glottis)
  • Pallor, cold sweat
  • Perioral cyanosis
  • Resolved with a deep sonorous breath — pathognomonic of laryngospasm (inspiratory stridor as spasm breaks)
  • Duration ~1 minute, full recovery afterward
Other forms of spasmophilia (manifest):
  • Chvostek's sign — twitching of facial muscles on tapping facial nerve
  • Trousseau's sign — carpopedal spasm on arm compression
  • Eclampsia (generalized seizures) — most severe form
Laboratory (CBC):
  • Hb 102 g/L — mild anemia (common in rickets due to nutritional deficiency)
  • Lymphocytosis (59%) — physiological for age
  • No signs of bacterial infection (WBC 7.5 × 10⁹/L, ESR implied normal)
Key additional investigations to order:
  • Serum Ca²⁺ (expected ↓, <1.7–1.8 mmol/L during attack)
  • Serum phosphate (↓ in rickets)
  • Serum alkaline phosphatase (markedly ↑)
  • 25-OH Vitamin D level (↓)
  • PTH (↑ secondary hyperparathyroidism)
  • Wrist X-ray — "fraying," "cupping," widened metaphyses
  • Blood pH/bicarbonate — alkalosis

2. Treatment

Acute Management of Laryngospasm:

  1. Calm the child, lay on flat surface, ensure airway patency
  2. Stimulate breathing: irritate mucous membranes (ammonia/cold water to face), press on root of tongue, flick sole of foot
  3. Calcium gluconate 10% — 0.5–1 mL/kg IV slowly (over 5–10 min) diluted 1:1 with 5% glucose — first-line to terminate spasm (as per Harrison's, p. 1459)
  4. Oxygen via mask if cyanosis persists
  5. If laryngospasm does not break: sedation with diazepam 0.5 mg/kg IV/rectal, or phenobarbital

After Attack Stabilizes:

TreatmentDetail
Oral calciumCalcium gluconate 5% solution, 1 teaspoon 3×/day for 2–3 weeks
Vitamin DAfter 3–5 days of calcium loading begin Vitamin D₃: 2000–4000 IU/day for rickets Grade II
AnticonvulsantsPhenobarbital 5 mg/kg/day if seizures recur, short course
Diet correctionAdequate calcium intake, sun exposure
Parental educationCompliance with treatment, proper care, nutrition

Vitamin D Dosing for Rickets Grade II (Acute Course):

  • Therapeutic dose: 2000–4000 IU/day × 30–45 days
  • Then maintenance: 500–1000 IU/day
  • Reassess alkaline phosphatase and 25-OH-D at 1 month

Monitoring:

  • Serum Ca²⁺ every 3–5 days during acute phase
  • Avoid hypercalcemia (do not exceed 4000 IU/day without monitoring)
  • Urine calcium:creatinine ratio to detect hypercalciuria

Summary Table

Case 1Case 2
DiagnosisHypotrophia Grade II (PEM), Iron deficiency anemiaRickets Grade II, peak/acute + Spasmophilia (laryngospasm)
Key mechanismCaloric/protein deficit from non-adapted formulaVitamin D deficiency → hypocalcemia → neuromuscular hyperexcitability
Critical findingChulitskaya index −5, weight deficit 25%, absent subcutaneous fatLaryngospasm = apnea + crowing cry + perioral cyanosis → spontaneous recovery
Priority treatmentSwitch to adapted formula, phased refeeding, iron supplementationIV calcium gluconate (acute) → oral Ca²⁺ + Vitamin D₃ (maintenance)
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