Pediatric MCQ and Nots
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Toddler with fever, cough, and crackles in the lungs
CXR AP and lateral shows mild central airway thickening and mild lung hyperinflation bilaterally.
The diagnosis was respiratory syncytial virus pneumonia.
Infant with cough and fever
CXR AP and lateral (above) shows right upper lobe collapse and air outlining the inferior border of the heart (continuous diaphragm sign). Left lateral decubitus CXR (below) shows a small right pneumothorax.
The diagnosis was pneumopericardium and pneumomediastinum and right pneumothorax in a patient with respiratory syncytial virus pneumonia
Teenager with sickle cell disease and respiratory distress
CXR AP (left) shows opacity in the left lower lobe that on the lateral (middle) is located posteriorly (spine sign). The vertebral bodies (right) have an H-shaped appearance throughout the thoracic and lumbar spine.
The diagnosis was acute chest syndrome and musculoskeletal manifestations of sickle cell disease
Learning Point
The differential diagnosis of microcephaly is heterogeneous and many causes are not identified. In the largest study of microcephaly (N=680), where causes could be identified, 38% were primary and 62% were secondary. More patients were male and the majority of children were identified with microcephaly by 7-8 months of age.
Known cause = 59%
Genetic 28.5%
Perinatal brain injury 26.7%
Craniosynostosis 2.1%
Post natal brain injury 1.9%
Unknown cause = 40.7
In Brazil in March 2015, Zika virus became identified as a likely cause of primary microcephaly and an emerging, urgent public health concern, although the virus was identified in 1947.
The differential diagnosis of microcephaly includes:
Craniosynostosis
Genetic
Chromosomal problems
Trisomy 13, 18, 21
Williams syndrome
Monogenetic problems (including named and unnamed syndromes/mutations)
Autosomal dominant microcephaly
Autosomal recessive microcephaly
X-chromosomal microcephaly
Aicardi-Goutrieres syndrome
Ataxia-telangectasis
Borgeson-Forssman-Lahman syndrome
Cockayne syndrome
Cohen syndrome
Cornelia de Lange syndrome
Ligase IV syndrome
Marden syndrome
Mowat-Wilson syndrome
Feingold Syndrome
Rett Syndrome
Rubeinstein-Taybi syndrome
Smith-Lemli-Opitz syndrome
Seckel syndrome
Various other gene mutations
Imprinting disorders
Angleman syndrome
Infections (intrauterine, peri- or post-natal)
Encephalitis
Meningitis
Cytomegalovirus
Herpes simplex
HIV
Rubella
Syphilis
Toxoplasmosis
Varicella
Zika virus
Intrauterine event or problem
Death of twin
Placental insufficiency – extreme
Vascular incident such as stroke
Maternal disease
Anorexia nervosa
Hyperphenylalanenaemia
Metabolic causes
Cobalamin metabolism diorders
Galactosemia
Glycine encephalopathy
Glycose transporter defect
Glycosylation syndome
Leukodystrophies
Lysosomal storage disorders
Menkes disease
Mitochrondrial disorders
Pyruvate dehydraogenase deficiency
Molybdenum cofactor deficiency and sulphite oxidase deficiency
Neuronal ceroid-lipofuscinosis
Organic aciduria
Peroxisomal disorders
Phenylkeonuria
Purine and pyramidiaine metabolism disorders
Serine biosynthesis disorder
Sterol biosynthesis disorder
Urea cycle defects
Perinatal brain damage
Hypoxic-ischemic encephalopathy
Vascular event – hemorrhage or thrombosis
Structural brain abnormalities
Anencephaly
Holoprosencephaly
Teratogens
Alcohol
Antiepileptic drugs
Cocaine
Lead
Mercury
Radiation
Uremia
Trauma
Accident
Child maltreatment
Psychosocial deprivation
Other
Malnutrition
B12 deficiency
Systemic disorders
Congenital heart disease
Hypothyroidism
Hypopituitarism
A 5-month-old male came to clinic for his health supervision visit and followup from his neonatal intensive care stay. He was born prematurely at 28 weeks gestation and his stay was complicated by a right sided Grade III intraventricular hemorrhage, a left-sided Grade IV intraventricular hemorrhage, neonatal seizures, respiratory distress and bronchopulmonary dysplasia, retinopathy of prematurity, acute kidney injury that had resolved, possible necrotizing enterocolitis incidents x 2, and herpes simplex encephalitis. He was on home oxygen, a nasogastric feeding tube because of aspiration risk and multiple medications. He was taken care of by his mother, maternal grandmother and home nursing. He was to start home physical therapy, and had multiple followup appointments for specialty care already arranged.
The pertinent physical exam showed a small infant with a nasal canula and feeding tube in place. Weight (= 4.116 kg) and height (=54 cm) were at the 3th percentile and tracking. Head circumference was < 3% and was 36 week gestation (=33 cm). Premature infant standard growth charts were used. He had a small head and was not responsive to the examiner but was to the mother's voice. Extraoccular movements and pupillary reflexes were intact. He was hypotonic but when he became agitated would have increased tone and rigidity. He had several beats of clonus.
The diagnosis of a former premature infant with multiple significant medical problems was made including microcephaly. The physician reviewed the overall care plan with the mother including addressing needs for transportation, medical supplies and respite care. The infant’s next health supervision visit for vaccines including influenza was coordinated with a specialty appointment.
Discussion
Microcephaly is usually defined as an occipitofrontal head circumference (OFC) more than 2 standard deviations (SD) below the mean for sex, age and ethnicity. Severe microcephaly is used for OFC < 3 standard deviations. Rates of microcephaly range from 0.5-12 patients/10,000 live births.
The OFC should be measured at every well child visit and at other opportunities and plotted on standard growth charts. The OFC is measured using a nonelastic tape measure around the largest part of the head with the tape measure held above the eyebrows and ears. It is a highly reproducible measurement. There are several different international standard growth charts that can be used and those used should reflect the population the patient is drawn from the best. For example, the World Health Organization has growth charts taken from the children in the countries of Brazil, Ghana, India, Oman and the USA (www.who.int/childgrowth/en). In industrialized countries the OFC is larger and may not be as accurately reflected using the WHO chart. Some researchers prefer the Centers for Disease Control growth charts as an industrialized country standard (www.cdc.gov/growthcharts/)
While the OFC reflects the skull size and growth over time, the main determinant of normal growth of the skull is the brain and therefore, the OFC is considered a marker of brain growth. However, the extent of the microcephaly does not significantly correlate with the degree of developmental delay.
There are different categorizations of microcephaly, but the authors of the largest study of microcephaly recommend using primary or secondary (i.e. noted at birth or after birth respectively) as this helps with timing of microcephaly onset and therefore possible underlying causes. Proportional (i.e. weight and height are also 2 SD below their means) vs disproportional (i.e. weight and height are 2 SD or more above their means) also helps with diagnostic reasoning and evaluation.
The phenotype of patients with microcephaly is variable and often reflects the underlying diagnosis and concomitant organ systems that are affected. Intellectual delay or disability is the most common problem associated with microcephaly but other problems do occur.
Infections
Viral
Mumps
Adenovirus
Coxsackie virus
Cytomegalovirus
Epstein-Barr virus
Influenza
Parainfluenza
Parvovirus B-19
Bacterial
Staphylococcus aureus
Streptococcus
Mycobacterium tuberculosis
Mycobacterium avium
Other
Toxoplasmosis
Abscess
Inflammatory
Sjorgren’s syndrome
Sarcoidosis
Systemic erythematosus lupus
Trauma
Hematoma
Foreign body
Tumor – rare
Benign
Malignant
Other – bony tumors, vascular malformations
Other
Sialolithiasis – salivary stones
Anatomic abnormalities
Cystic fibrosis
Juvenile recurrent parotitis – a non-obstructive, non-suppurative parotitis
Metabolic disorders
Problems with adjacent structures may look like parotitis
Dental
Dermatological
Cold panniculitis
What Causes Parotitis?
Patient Presentation
A 10-year-old male came to clinic with a 1 day history of left cheek swelling and pain. He denied any trauma and it was described as having an insidious onset with a temperature of 99.8F and some general malaise. He said his “cheek just hurt” in general and a little more with chewing but denied any actual tooth pain, ear pain, or any new sounds with chewing. He had no identified sick contacts. The past medical history showed he was fully vaccinated including for mumps at age 5.5 years. He had regular dental care.
The pertinent physical exam showed a healthy male with normal vital signs and growth parameters. He was afebrile. His left cheek was slightly more prominent and anterior to the ear was slightly swollen and warmer. The angle of the jaw was palpable and there was no specific crepitus or problems with the temporomandibular joint with movement. His ears were normal bilaterally. Intraorally, the cheek potentially was more erythematous and there was some mucopurulent fluid when the parotid glad was milked. No dental pain was elicited when each tooth was tapped and the maxillary sinuses also did not have pain with palpation. The facial nerve did not appear to be affected.
The diagnosis of parotitis was made. As the patient was fully vaccinated, the pediatrician was unsure if testing for mumps would be helpful so he contacted dentistry. They recommended to try to get a culture of the intraoral fluid from the duct if possible, and to start the patient on antibiotics for a probable bacterial cause, along with symptomatic treatment. A dental appointment was made for the following day. The patient’s clinical course showed that he improved over the following week with resolution of all symptoms. The culture grew intraoral flora without a specific predominant organism.
Discussion
The salivary glands are important for creating saliva which helps with taste, digestion, oral health, and speech. Salivary gland problems are not that common but can be painful, annoying or herald potential systemic diseases. The parotid gland is the largest salivary gland lying anterior to the ear within the cheek structures. There are 2 lobes (superficial and deep) and the facial nerve runs between them. The salivary duct opens adjacent to the upper second molar. Infections are the most common cause of parotitis with mumps being the most commonly associated infection especially in unimmunized patients.
Patients with parotitis present with pain or discomfort, swelling, and potentially systemic fever and/or localized temperature elevation. The jaw angle may not be discernable because of the swelling and there may be mucopurulent discharge from the salivary duct. Special attention should be paid to the facial nerve innervation and adjacent structures when examining the patient.
Patients are usually treated supportively for infectious causes with analgesics, sialoguges, parotid gland massage, oral hygiene practices and if appropriate, antibiotics. Consultations with dentists or otorhinolaryngologists may assist primary care providers with outpatient management and is helpful if the diagnosis is not clear.
Learning Point
The differential diagnosis for parotitis and other salivary gland disorders includes:
#Malar rash may occur in several systemic and local diseases.
Common causes of malar rash are as follows:
Erysipelas
Cellulitis
Systemic lupus erythematosus
Rosacea
Pellagra
**Dermatomyositis .. should be considered as from hx pt cant able to do his daily activities because muscle affected.
