Case study Flashcards
A baby boy of approximately 36 weeks gestational age is born to a primigravida mother. Pregnancy and delivery are uncomplicated, with Apgar scores of 9 at 1 and 5 minutes. Mother’s and baby’s blood groups are both O+. Mother chooses to exclusively breastfeed the baby. At 24 hours of life, the baby is noted to be jaundiced and the total serum bilirubin is noted to be 119.7 micromol/L (7 mg/dL). He is discharged home later the same day with an appointment for follow-up with the paediatrician at 1 week of age. However, 48 hours later, the baby is brought to the emergency department. History from the mother reveals that the baby has progressively become more jaundiced, is not breastfeeding well and is lethargic. Examination also reveals evidence of moderate volume depletion and significant jaundice (including the soles). The neurological examination is normal and total serum bilirubin is 342.1 micromol/L (20 mg/dL).
Neonatal Jaundice
A term baby is born to a mother who had a previous baby with a history of jaundice in the newborn period, not requiring hospitalisation. Pregnancy and delivery are uncomplicated, with Apgar scores of 8 and 9 at 1 and 5 minutes, respectively. Mother’s and baby’s blood groups are O+ and B+, respectively. At 12 hours of life, the baby is noted to be jaundiced and the total serum bilirubin is 85.5 micromol/L (5 mg/dL). Tests reveal direct Coombs’ test to be positive and presence of microspherocytes on the peripheral smear.
Other presentations
The neonate may present with clinical signs of bilirubin encephalopathy. These include irritability with a high-pitched cry, possibly fever and increased muscle tone (usually involving the extensor group of muscles), and characteristically intermittent backwards arching of the neck (retrocollis) and trunk (opisthotonus). Decreased tone and abnormal Moro reflex are possible manifestations.
Neonatal Jaundice
A 32-year-old woman presents at 25 weeks’ gestation in her third pregnancy with a positive antibody screen. She is known to be Rh-negative with a Rh-positive sexual partner. Two previous children were born overseas: the first child was carried to term and is healthy. The second child, also born at term, underwent phototherapy in the immediate neonatal period due to jaundice. The patient did not have anti-D prophylaxis given antenatally or postnatally in the previous pregnancies. Physical examination is normal.
Rh incompatability
A 38-year-old primigravida woman presents for routine antenatal care. Her blood type is known to be Rh-negative with a negative indirect Coombs test, and her sexual partner is Rh-positive. She has been counselled regarding the need for Rh immunoprophylaxis at 28 weeks of pregnancy and postnatally if her newborn is found to be Rh-positive.
Other presentations
Manifestations of severe erythroblastosis fetalis include ultrasound evidence of significant effusions in serous cavities, organomegaly, polyhydramnios, and extensive skin oedema (anasarca). Anti-RhD antibody titres in severe disease are usually high (>1:32 dilutions). Anti-Kell antibodies may be associated with profound fetal anaemia and hydrops in the presence of low antibody titres due to suppression of erythropoiesis. Evidence suggesting severe fetal anaemia includes high peak systolic velocities on Doppler ultrasound of the middle cerebral artery, low biophysical profile scores, and a sinusoidal fetal heart rate pattern. Although these manifestations of severe fetal disease are usually not detected in a first affected pregnancy, significant fetomaternal haemorrhage from any cause may lead to a secondary immune response and hydrops fetalis, even in a primiparous patient.
Rh incompatability
A 20-year-old black woman presents to her primary care physician complaining of generalised weakness, fevers, and light-headedness for 2 weeks. Her symptoms have worsened over the previous week, when she developed left lower chest pain and left upper quadrant abdominal pain. A urinalysis was obtained, and she was treated for a UTI. She returns to her primary care physician when symptoms continue to worsen.
Other presentations
The presentation of haemolytic anaemia can be highly variable, due to the wide variety of underlying causes. Common symptoms relate to the anaemia and include fatigue, dyspnoea, and light-headedness. While patients with an autoimmune haemolysis may have no other symptoms to direct the evaluation, other causes may be identified from the history or by laboratory evaluation. Recent exposure to a new medication is a common presentation, related to an antibody-mediated RBC destruction or glucose-6-phosphate dehydrogenase deficiency-related response. A lifelong history of anaemia and haemolysis may indicate a congenital cause due to RBC membrane defect or haemoglobinopathy.
Haemolytic anaemia
A 19-year-old woman presents to the emergency department in active labour. She states she is 27 weeks pregnant and that her waters broke a few days ago. She is rushed to obstetrics for immediate examination. Fetal monitoring reveals severe prolonged heart rate decelerations and an emergent caesarean section is performed for fetal indications. The infant is born apnoeic, floppy, and bradycardic. There is no vernix present and there is sparse lanugo.
Premature newborn care
A 22-year-old multiparous woman who has continued to smoke ‘several’ cigarettes per day during pregnancy presents to her obstetrician in premature labour and with premature rupture of membranes. The fetus is currently at 34 weeks’ gestation. On examination she is dilated to 7 cm, has contractions every 3 minutes, and the obstetrician confirms that delivery is imminent. The infant is delivered vaginally and appears well immediately after birth. Apgar scores are 9 at both 1 and 5 minutes of age.
Other presentations
While an extremely premature infant is more likely to require extensive and immediate resuscitation after birth, some premature infants require only limited support (e.g., temperature and glucose homeostasis). Conversely, some term and post-term infants may have significant instability requiring urgent and timely intervention immediately after birth. Each newborn must be evaluated on an individual basis.
Premature newborn care
A 60-year-old man presents with acute onset of shortness of breath, fever, and cough. A chest x-ray (CXR) shows a right lower lobe infiltrate, and sputum has gram-positive diplococci. He is given intravenous antibiotics but his respiratory status declines over 24 hours. He becomes hypotensive and is transferred to the ICU. He is intubated for hypoxaemia and requires vasopressors for septic shock despite adequate volume resuscitation. He requires high levels of inspired oxygen (FiO₂) and positive end-expiratory pressure (PEEP) on the ventilator to keep his oxygen saturation >90%. Repeat CXR shows bilateral alveolar infiltrates, and his PaO₂/FiO₂ ratio is 109.
Acute respiratory distress syndrome
A healthy newborn boy presents for assessment of a bilateral foot deformity. Antenatal ultrasound demonstrated findings consistent with bilateral clubfoot. There is no family history of clubfoot deformities. His examination is normal except for the deformities of his feet and possible hip subluxation. The foot examination demonstrates limited dorsiflexion of the ankle. The hind foot is in varus with the forefoot adducted. A cavus appearance of the mid foot is noted, with a deep crease in the instep.
Talipes (Equinovarus foot deformity)
A 1-month-old girl presents to her general practitioner with a high fever, feeding difficulties, and irritability for the past 24 hours. Examination reveals altered mental status and a bulging fontanelle.
Bacterial meningitis
An 18-year-old male student presents with severe headache and fever that he has had for 3 days. Examination reveals fever, photophobia, and neck stiffness.
Other presentations
Atypical clinical manifestations tend to occur in very young, older, or immunocompromised patients. [1] In infants the signs and symptoms can be non-specific and may include fever, hypothermia, irritability, lethargy, poor feeding, seizures, apnoea, or a bulging fontanelle. [2] [3] In older adults, often the only presenting sign of meningitis is confusion or an altered mental status.
Bacterial meningitis
A 35-year-old man originally from sub-Saharan Africa presents with a 3-week history of headache and fever. On questioning, he has had intermittent diarrhoea and weight loss of 10 kg over the last year. The patient’s Glasgow Coma Scale score is 15, he is haemodynamically stable, and the only positive findings on examination are a fever of 38.5°C (100.4°F) and oral candidiasis.
Fungal meningitis
A 25-year-old woman presents with increasing headache for 3 to 4 weeks together with confusion, nausea and vomiting, and diplopia for 1 week. On examination she is drowsy, but is able to cooperate with the medical examination. On neurological examination she has a left 6th cranial nerve palsy and has reduced visual acuity and papilloedema. There are no further positive findings on examination.
Patients with xxx may also present with altered personality, drowsiness, seizures, nausea and/or vomiting, hearing loss, and fever without prominent headache. In particular, patients with cryptococcal meningitis may present with signs and symptoms of raised intracranial pressure such as severe headache, nausea or vomiting, visual loss, and altered mental status. Symptoms and signs of hydrocephalus commonly occur in patients diagnosed with coccidioidal meningitis either at presentation or as a late complication.
Fungal meningitis
A 19-year-old man presents with a 2-day history of headache and associated nausea. He says that bright light hurts his eyes. He has no significant past medical history, is not currently taking any medicine, and reports no drug allergies. He works as a librarian and has not travelled overseas for the past year. He lives with his girlfriend whom he has been seeing for 2 years. They have a pet hamster.
Viral meningitis
Parents bring their 2-year-old child who has been ill for 1 day with irritability, vomiting, and fever. The child has a widespread maculopapular rash.
Other presentations
The symptoms and signs of xxxx are similar to those of xxx and it may be impossible to differentiate the 2 conditions clinically. Headache and fever are typically prominent. [1] Patients may also complain of photophobia, neck stiffness, and nausea. [2] There may be an associated rash. In young children, presentation may be non-specific and meningitis may not be suspected. [3] Children may also present with seizures and this does not necessarily indicate the presence of encephalitis. Mollaret’s meningitis is a benign recurrent xxxx thought to be caused by HSV-2.
Viral meningitis
A 5-year-old boy is brought in by his mother. He presents with a 4-day history of a rash on his lower extremities, mild abdominal cramping, and diffuse joint pain. His mother reports that he was recently treated for a URTI.
Other presentations
While the rash occurs in all patients, the other classic symptoms do not always manifest. Scrotal pain and swelling may occur in about 13% of boys with HSP. [2] Other organ systems may be involved, including the CNS (patients may present with headaches or seizures) and pulmonary system (patients may present with pulmonary haemorrhage).
Henoch-Schonlein purpura
A 40-year-old overweight black woman presents with a 1- to 2-week prodrome of fatigue and malaise with diarrhoea and vomiting. Examination is normal except for slight confusion and petechiae on her lower extremities. Laboratory studies show a haematocrit of 25% and a platelet count of 10 x 10^9/L (10,000/microlitre). Lactate dehydrogenase is raised. Serum creatinine is 97.2 micromol/L (1.1 mg/dL). Peripheral smear shows fragmented RBCs (schistocytes) and an raised reticulocyte count.
Other presentations
Atypical presentations include schistocyte-less TTP, where schistocytes may be absent from the blood film in the first 24 to 48 hours (however, they are usually found on evaluation of the blood film at presentation); peripheral digit ischaemia, [5] which occurs when microthrombi disrupt blood flow to the digits; or sudden cardiac death, which is diagnosed by postmortem examination of the heart showing microthrombi in the vasculature
Thrombotic thrombocytopenic purpura
A previously well 1-year-old girl presents to the accident and emergency department with a history of lethargy and fever for 24 hours. She recently had symptoms suggestive of a viral upper respiratory tract infection. Her parents report that for a few hours prior to presentation she had become drowsy and difficult to rouse. They also report that they had noticed a rash developing on her trunk and limbs shortly before presentation. On initial assessment the following features are identified: reduced level of consciousness (response to painful stimulus only); tachycardia (heart rate 190 beats per minute); prolonged capillary refill time (>5 seconds peripherally); cold peripheries (core-toe temperature gap >10°C [>18°F]); fever (core temperature 39°C [102°F]); tachypnoea (respiratory rate 40 beats per minute) and grunting on expiration; and a widespread, non-blanching, purpuric rash on the trunk and limbs.
Sepsis in children
A 2-week-old preterm male neonate develops transient apnoeas and bradycardic episodes while in the neonatal intensive care unit. He had been born at 30 weeks’ gestation after spontaneous onset of preterm labour. He had required intubation and mechanical ventilation for 48 hours following birth for neonatal respiratory distress syndrome. Standard dosing of surfactant was administered during this time. He required respiratory support with continuous positive airway pressure for 1 week after his extubation, and was cycling on and off high-flow oxygen therapy at the time of this event. He had established full enteral feeding after a period of parenteral feeding via a percutaneous central venous catheter (long-line). The long-line was still in situ at the time of this event, and was planned for removal that day. In addition to the apnoeas and bradycardias, it was noted that he had temperature instability and increased capillary refill time (>3 seconds); both of these features were a change from the previous observation trends.
Other presentations
The typical presentation of xxx varies according to the age of the child. Whereas older children often present with a focus of infection, infants and neonates usually present with non-specific symptoms and signs. For example, the early signs of xxx in preterm infants are often apnoeas and bradycardias. [5] In the neonatal population, including preterm infants, any change from the patient’s normal pattern of observations should raise the suspicion of xxx.
Septic shock commonly presents as ‘cold shock’ with profound peripheral vasoconstriction and impaired myocardial contractility. However, another mode of presentation is ‘warm shock’ characterised by systemic vasoplegia (dilated peripheral vasculature and ‘flash’ capillary refill) with a high cardiac output and bounding pulses. Studies suggest that this mode of presentation is more common in hospital-acquired sepsis.
Sepsis in children
A 6-year-old boy presents with fever, headache, and a diffuse, pruritic, vesicular rash, which is most prominent on the face and chest. He has had generalised malaise and low-grade fever for a few days prior to presentation. He developed high fever and a rash in the last 48 hours. Physical examination demonstrates a temperature of 39°C (102°F) and heart rate of 140 beats/minute. He has a few scattered vesicular lesions in his oropharynx and his lung fields are clear. The lesions are prominent on the face and chest, but all extremities are also involved. In some areas the lesions are crusted, while in others they appear newly formed. He has no nuchal rigidity or other meningeal signs. The child has never been immunised for varicella, and a classmate at his school had chickenpox a few weeks ago.
Acute varicella-zoster (chicken pox)
