Pediatric MCQ and Nots

The most common clinical manifestation in infants with sickle cell disease is: a) Aplastic anemia b) Salmonella osteomyelitis c) Pneumonia d) UTI e) Dactylitis Answer is E The question about most common manifestations As we know in sickle cell anemia There is vasoocclusive crises It occurs especially in narrower arteries As in the hand So its E The other are rare complications

An 11-year-old boy is seen in the pediatric clinic for evaluation of fever. He has had daily fever to at least 39°C for the last 10 days. Other symptoms include malaise, decreased appetite, abdominal pain, and back pain. He has not had any rash, sick contacts, or contact with pets. Three weeks ago, he travelled to Mexico and consumed cheese from his family's dairy farm. He did not have contact with any farm animals. His vital signs include a temperature of 39.1°C, heart rate of 95 beats/min, respiratory rate of 18 breaths/min, and blood pressure of 98/57 mm Hg. Physical examination reveals hepatosplenomegaly but no lymphadenopathy. Of the following, the organism MOST likely to be responsible for the boy’s illness is A. Bartonella henselae B. Brucella melitensis C. Francisella tularensis D. Salmonella typhi Correct Answer: B The organism most likely to be responsible for the boy’s illness is Brucella melitensis. Brucellosis is an important consideration in the differential diagnosis of fever of unknown origin, particularly if recent history suggests a potential exposure to the organism. The boy in the vignette had recently consumed cheese from his family’s dairy farm. Consumption of unpasteurized dairy products is the top risk factor for brucellosis in children in the United States. Brucellosis is a zoonotic illness transmitted by contact with tissue or fluid of infected animals, including cattle, goats, sheep, and swine. It can be acquired by direct contact, inhalation, or ingestion. The symptoms of brucellosis are nonspecific and can include fever, malaise, myalgias, arthralgias, abdominal pain, and headache. Physical examination may reveal lymphadenopathy, hepatosplenomegaly, and arthritis. The serum agglutination test is the most commonly used diagnostic test and is the preferred serologic assay. Brucella can grow on cultures of specimens such as blood and tissues. Bartonella henselae is another important organism to consider when evaluating a child with a fever of unknown origin. This zoonotic infection is typically acquired after contact with cats. However, other animals, including dogs, can be infected. Transmission can also occur via contact with infected fleas. The most common manifestation of B henselae infection is lymphadenopathy/lymphadenitis. Disseminated Bartonella infections present as fever of unknown origin; abdominal ultrasonography may reveal hepatosplenic lesions in children with disseminated infection. Francisella tularensis is the organism responsible for tularemia. There are several clinical forms of illness, depending on the means by which the organism is acquired: ulceroglandular, glandular, oculoglandular, oropharyngeal, pneumonic, and typhoidal. Disease after a tick bite can manifest as an eschar at the bite site with local adenopathy. If inhaled, pulmonic disease can develop. Typhoidal tularemia manifests as high fever and hepatosplenomegaly. Infection is most commonly acquired via tick bites, but can also occur with other arthropod bites, direct contact with infected animals, inhalation of contaminated aerosols, or ingestion of contaminated food. Salmonella typhi infection should be considered when evaluating fever in an individual who has traveled abroad. Symptoms can include abdominal pain and either diarrhea or constipation. Findings on physical examination can include hepatosplenomegaly and rose spots. Unlike other Salmonella infections, typhoid fever is not a zoonotic infection. It is spread from person to person, typically from improper hygiene by an infected food handler. In the United States, most cases occur after travel to endemic countries, especially those in Asia.

☠️☠️Overtreatment may induce tachycardia, nervousness and disturbed sleep patterns, and can produce premature fusion of cranial sutures and epiphyses👉 If symptoms of overtreatment or very suppressed TSH, reduce dose of levothyroxine -AFTERCARE ● Reassure parents that baby will grow into healthy adult with normal intelligence ● Stress importance of regular treatment. As half-life is long👉it is not necessary to give an extra tablet next day if a day's treatment missed Neonatal giuedlines

Congenital Hypothyroidism (CHT) SCREENING 👉 Congenital hypothyroidism (CHT) is included in routine neonatal blood spot screening at age 5–8 days 👉 In preterm babies of ≤31weeks’ gestation, repeat at 28 days of age or at discharge, whichever is sooner 👉 Screening relies on measurement of raised blood spot TSH ✍️Reporting of screening result 💂‍♀️ Initial TSH concentration of: 👉 <10 mU/L: negative result – CHT not suspected 👉 ≥20 mU/L: positive result – CHT suspected 👉≥10 mU/L but <20 mU/L: borderline result👉 repeat sample to be collected and tested👉 If repeat sample result is: ● <10 mU/L: negative result – CHT not suspected ● ≥10 mU/L: positive result – CHT suspected ☠️☠️IMMEDIATE MANAGEMENT☠️☠️ 👉 Consultant to arrange to meet parents on same or next day to: 👉 explain abnormal result 👉 examine baby using screening laboratory proforma as an aide-mémoire 👉 look for other abnormalities (10% in CHT versus 3% in baby without CHT), congenital heart disease (pulmonary stenosis, ASD and VSD) is commonest anomaly 👉 commence treatment 👉 stress importance of daily and life-long treatment 👉 Document discussion and management plan and follow-up 👉 Complete and return data form to clinical biochemist at screening laboratory ✍️Obtain further diagnostic tests 🌴🌴 Baby ● 1 mL venous blood in heparinised container for FT4 and TSH ● send repeat dried blood spot card to screening laboratory ● 1 mL venous blood for serum thyroglobulin ● ultrasound or radionuclide scan of thyroid, the latter preferably within 5 days of starting levothyroxine; ultrasound can be performed at any age 🌴🌴 Mother ● take 3 mL venous blood from mother into a heparinised container for FT4, TSH and thyroid antibodies ☠️☠️TREATMENT☠️☠️ 👉Start treatment with levothyroxine after obtaining confirmatory blood tests. 👉☠️Do not wait for results unless transient hypothyroidism suspected. Treatment must start before 18 days of age, and preferably by 14 days. For those detected on repeat sampling, treatment should ideally commence by 21 days and certainly before 24 days 👉 after discussion with paediatric endocrinologist, consultant may withhold treatment if transient hypothyroidism suspected ✍️ Starting dose levothyroxine 10–15 microgram/kg/day with a maximum daily dose of 50 microgram. 👉Aim to maintain serum FT4 in upper half of normal range by 2 weeks treatment and for normalisation of TSH by 4 weeks ✍️ Adjustment required depending on thyroid function test results ✍️ Tablets are 25 microgram strength 👉 it is not necessary to divide tablets for intermediate dose; administer intermediate dose, such as 37.5 microgram, as 25 and 50 microgram on alternate days 👉 Crush required levothyroxine dose using tablet crusher (if tablet crusher not available, between 2 metal spoons) and mix with a little milk or water, using teaspoon or syringe ☠️ do not add to bottle of formula ☠️ suspensions not advised due to variable bioavailability ☠️ repeat dose if baby vomits or regurgitates immediately ☠️ Record date treatment commenced ☠️ Provide parents with 28 day prescription for levothyroxine ☠️ Arrange continued prescription with GP, emphasising need to avoid suspensions ☠️☠️FOLLOW–UP☠️☠️ 👉 Arrange follow-up after commencement of hormone replacement therapy as follows: 👉 2 weeks, 4 weeks, 8 weeks, 3 months, 6 months, 9 months, 1 yr, 18 months, 2 yr, 30 months, 3 yr, yearly thereafter ● At each clinic visit: ● physical examination, including height, weight and head circumference ● developmental progress ● blood sample for thyroid function test (FT4, FT3 and TSH, just before usual daily medication dose) ● request as FT4 priority, then TSH ● Aim for FT4 towards upper limit of normal range ● at higher concentrations of FT4, normal concentrations of T3 (produced by peripheral conversion) are achieved ● if FT44 concentration satisfactory but with significantly raised TSH, consider non-compliance ● TSH concentration does not always normalise under 6 months and may be slightly raised up to 3 yr of age in absence of non-compliance, probably due to reset feedback mechanism

Maple Syrup Urine Disease ⭕️ The defect in MSUD is in the oxidative decarboxylation of ketoacids 🍬(the ketoacids are what smell sweet), ◾️which are formed by catabolism of the branched-chain amino acids (BCAAs). 🙄Note that this disorder comes after catabolism of BCAAs into ketones. ⭕️ AR mutations can occur in 4 different genes and cause MSUD. ◾️The incidence is - 1/ 150,000. ◾️It occurs more frequently in populations with consanguinity, as the Pennsylvanian Mennonites. ⭕️Classic MSUD presents with CNS disease early in infancy, ◾️ the urine (or hair or skin) smells like maple syrup. ◾️Infants are well at birth ◾️rapid progression to death in 2-4 weeks without treatment. 🔲 Babies have feeding difficulties, ◾️irregular respirations, or loss of the Moro reflex. ◾️Severe seizures, opisthotonos and rigidity are typical presenting signs. ◾️Death follows decerebrate rigidity from cerebral edema. 🔲Milder forms of the disease have intermittent ataxia ◾️ repeated episodes of lethargy and coma but without intellectual disability. ◾️Stressors, such as infection, frequently induce this form. 🔞These patients have a high anion gap metabolic acidosis with ketonuria. ⭕️Diagnose by the 3 BCAAs- leucine, isoleucine, and valine in the plasma and urine. ◾️Finding alloisoleucine, an abnormal amino acid, is diagnostic for MSUD. ⭕️Therapy: Aim for dietary control of leucine, isoleucine, and valine. ◾️If therapy is started early, before damage has occurred, normal IQ is possible. ◾️There is a very rare form of MSUD that responds very well to thiamine.

إذا تناهتِ الشدّةُ كانَ الفَرَجُ .

هل تشعر أحياناً بضيق وقلق لاتعرف له سببا قال الغزالي: الضيقه المجهولة لربما هي ذنوب تطلب منك استغفارا

Rickets caused by vit. D deficiency

Dietary Deficiency–Associated Dermatitis in a Child؟ ?

Remember the "rule of 50s" for hypoglycemia treatment - don't forget it for boards & life! Easy points right here: >8 y/o= D50 x 1ml/kg 1-8 y/o= D25 x 2ml/kg <1 y/o= D10 x 5ml/kg

A newborn baby presents with abdominal distention, vomiting & absence of bowel movement for 3 days. What is the likely diagnosis? Hirschsprung disease 👉🏽 Congenital failure of ganglion cells to descend into enteric plexus → defective relaxation & peristalsis 💩 Failure to pass meconium within 48h, empty rectal vault on DRE 🚊 Contrast enema demonstrates transition zone