Welcome to the ESPID 2022 Meeting Calendar

Title of Case(s):

A 5-YEAR-OLD BOY WITH FEVER

Background:

In this case of pyrexia of unknown origin in the UK, the patient was under the care of several teams before the diagnosis was made.

Case Presentation Summary:

A 5-year-old boy presented to his general practitioner after two days of fever and abdominal pain. He had leucocytes on urinary dipstick and was prescribed co-amoxiclav. On day 3 he presented to the emergency room with vomiting. He was reviewed by the surgeons, and on examination had right iliac fossa tenderness. During a laparoscopic appendicectomy, pus was noted in the abdomen but the appendix was normal. Ceftriaxone, amikacin and metronidazole were commenced post-operatively for suspected primary peritonitis (day 4). His C-reactive protein (CRP) was 332mg/L and his amylase was raised above the laboratory limit (>3500 units/L). On examination he was noted to have unilateral cervical lymphadenopathy (day 5). Investigations were sent for mumps and hepatitis A/B/C (serology) and Epstein-Barr virus and cytomegalovirus (DNA PCR), all of which were negative (day 6). He was managed for pancreatitis by the gastroenterology team with intravenous fluids was nil by mouth. His amylase declined, but his CRP increased and he remained pyrexial. Fluconazole was added to his antimicrobial regimen by the microbiology team (day 8). An ultrasound scan (day 9) demonstrated sludge in the gall-bladder but no complications of pancreatitis. Overnight of day 11 he complained of red, itchy eyes. Due to ongoing pyrexia, high inflammatory markers, conjunctivitis, lymphadenopathy, pancreatitis and gall-bladder sludge, incomplete Kawasaki disease was suspected. His CRP and fever declined with intravenous immunoglobulin and methylprednisolone. His echocardiogram and electrocardiogram were initially normal, but follow-up investigations revealed new mitral and tricuspid regurgitation and lateral myocardial ischaemia.

Key Learning Points:

Kawasaki disease may be incomplete and signs may not be concurrent. Inflammatory features beyond the classical five clinical signs may be features of the condition.

Title of Case(s):

Fever of unknown origin: was it the plane, the parent or the parrot?

Background:

Fever of unknown origin can be a puzzling clinical presentation, especially if signs and symptoms are atypical and if there are multiple potentially relevant exposures.

Case Presentation Summary:

A 10-year-old girl presented with a history of fever for nine days and painful joints. She also reported lower abdominal pain, night sweats and weight loss. A close contact had recently been diagnosed with pulmonary tuberculosis and she had travelled to Suriname prior to presentation. The family history was positive for auto-immune diseases and the patient had a parrot at home.

On physical examination, she was pale and had a temperature of 38.6C, examination was otherwise unremarkable. CRP was 19 mg/L, ESR 35 mm/hr, white cell count 3.5x109/L, haemoglobin 7.0 mmol/L, platelets 201x109/l and ferritin 1209 ug/L. A peripheral blood film showed atypical lymphocytes, no blasts. Abdominal ultrasonography showed enlarged lymph nodes around the aorta and the right iliac artery. Chest X-ray was normal.

Extensive microbiological work-up including testing for tuberculosis did not yield any positive results. A positron emission tomography CT scan showed lymphadenopathy with enhanced fluorine-18-deoxyglucose uptake in both axillae, abdominally and in the left tonsil and mild poly-arthritis in the feet and hands.

A bone marrow biopsy showed normocellular bone marrow with reactive lymphocytosis and hemophagocytosis, but no signs of malignancy. Subsequently, a lymph node from the right axilla was excised for histopathological analysis. This showed a necrotising histiocytic lymphadenitis, typical for Kikuchi disease. She was treated conservatively and recovered swiftly without sequelae.

Key Learning Points:

Kikuchi disease is a rare and generally benign condition of uncertain aetiology that presents with non-specific symptoms including fever and lymphadenopathy. Clinical presentations can vary, and lymph node biopsy is required for definitive diagnosis. When tumour is the rumour, tissue is the issue.

Title of Case(s):

PERSISTENT FEVER, HEPATOSPLENOMEGALY, RASH, GBS BACTERAEMIA AND EBV REACTIVATION IN 11 YEAR OLD GIRL

Background:

A complex case requires a multiprofessional approach to make a unifying diagnosis.

Case Presentation Summary:

An 11-year-old girl was transferred to a tertiary centre having presented to her local hospital with a 2-day history of fever, left-sided neck swelling, epistaxis, hepatosplenomegaly, and jaundice. Blood cultures grew Group B Streptococcus, and appropriate antibiotics were commenced. Significant medical history included catastrophic epistaxis four months ago requiring multiple transfusions, diagnosed as immune thrombocytopenia which had resolved at review. Old Ebstein-Barr virus(EBV) infection was evident at this time on serology, with minimal reactive viraemia.

Blood results showed low Hb(65), lymphopenia(1.04), normal platelets, positive DCT, ferritin 550, CRP 70, AST 618, total bilirubin 21 and conjugated bilirubin 12. She had a mild EBV viraemia, hypergammaglobulinaemia, undetectable C3/C4; Neck ultrasound: lymphadenitis; Blood film: changes consistent with infection, and felt to be inconsistent with autoimmune haemolysis/malignancy.

She was transferred to her local hospital on antimicrobials to be closer to family, but 3 days later she was transferred back as she remained febrile with a progressive malar rash, mouth ulcers and alopecia. Repeat infective screen was positive only for mild reactive EBV viraemia. Abdominal MRI showed inflamed/necrotic para-aortic lymph nodes, which suggested an underlying autoimmune process rather than lymphoma. Rheumatology consultation diagnosed systemic lupus erythematosus(SLE) with evolving haemophagocytic lymphohistiocytosis(HLH), and treated this with IV methylprednisolone, followed by anakinra within the first 24 hours as she developed acute pancreatitis. Her ANA and anti-dsDNA results eventually came back positive. She responded well to immunomodulatory and supportive treatment.

Key Learning Points:

When an infective process does not follow a typical course, review the diagnosis with a multiprofessional approach, and consider autoimmune aetiologies such as SLE.

ITP may be a presenting feature of evolving SLE.

Hyperinflammation(HLH) should always be considered in any sick child.

Title of Case(s):

PUO and a nasopharyngeal mass

Background:

Chronic Active Epstein Virus Disease (CAEBV) is marked by persistent infectious mononucleosis symptoms with elevated levels of EBV DNA in the blood and infiltration of organs with EBV-positive lymphocytes. Patients develop progressive immunodeficiency if not treated potentially succumbing to opportunistic infections, multiorgan failure, haemophagocytosis or EBV positive lymphomas. The only proven effective treatment is haematopoietic stem cell transplantation.

Case Presentation Summary:

A 10 year old girl presented with a 5 week history of intermittent fever, rigors, night sweats, sore throat, headaches, abdominal pain, 1.5kg weight loss and mild hepatosplenomegaly. An extensive infectious screen was negative except for a positive PCR for EBV with a titre of 11,665 copies/ml and EBV serology indicative of acute infection. She remained with occasional spikes of fever associated with oral ulcers and fatigue. She then developed a left sided otitis media with effusion a month later with CT and MRI scans of the brain, neck and trunk revealing a soft tissue mass in the nasopharynx. BMA and trephine showed a reactive marrow and unremarkable morphology. Biopsy of the palatal mass initially suggested a possible diagnosis of Wegener’s granulomatosis. However, due to rapid worsening of her clinical condition upon starting oral prednisolone with increasing hepatosplenomegaly, passage of necrotic material nasally, her steroids were stopped. EBV PCR remained persistently positive without evidence of clearance of the infection, consistent with COAEBV infection. Repeat biopsy showed extranodal NK/T cell lymphoma for which she received chemotherapy and a bone marrow transplant. Unfortunately she relapsed within 6 months from transplantation.

Key Learning Points:

1. Important to consider CAEBV in symptomatic patients with persistent high EBV titres.

2. CAEBV may progress to lymphoproliferative disease

Title of Case(s):

AN UNUSUAL RASH ON A HEALTHY NEWBORN'S BACK

Background:

A healthy full-term girl, born by vaginal delivery after an unremarkable pregnancy, on the fifth day of life presented a thick hyperkeratotic and erythematous nodules on her back (figure 1).

Case Presentation Summary:

In the next 30-days, several lesions spread to the abdomen and the extremities. Trough time each lesion become thicker and the erythema extended to the surrounding skin (figure 2). The mother received a diagnosis of stress dermatitis during pregnancy and reported a slight and temporary improvement of the lesions with topical betamethasone plus gentamycin. The girl was admitted at the age of 35 days, she was well appearing and no other symptoms. Dermatoscopy of the lesions showed jetliners signs and scabies mites. Therefore, a diagnosis of neonatal scabies was made. We treated her and her cohabitants with a cream containing sulfur 18% and potassium carbonate 8%, obtaining complete and definitive healing. Her and all the cohabitants received two courses of three consecutive days of cream. Moreover, wears and house underwent disinfestation procedures.

Key Learning Points:

Neonatal scabies typically presents as a long-lasting nodular eruption and may be overlooked or easily underwent misdiagnosis. Therefore, patients affected by neonatal scabies often receive topical steroids that may lead to an apparent partial response due to reduction of the eosinophilic inflammation as in our case. In new-borns even the face can be involved by scabies mites, and bacterial superinfection may be severe requiring systemic antibiotics. Nearly always, infestation involves all cohabiting and they should be treated regardless of their status as well as the house and wears. Therefore, a family history of hitching should be valued beyond the diagnosis received by the cohabitants. The diagnosis of neonatal scabies is frequently missed or delayed in absence of a clear family history. Moreover, the histology, if performed, is often inconclusive.

Title of Case(s):

What it comes from wetlands

Background:

Scalp infections are usually due to bacteria or fungus and can be common in children. The approach to diagnosis in more severe presentations must take account geographic features and outdoor activities of the patient.

Case Presentation Summary:

A previously healthy 7-year-old girl presented with a 7cm wide, painful, edematous plaque on the vertex, with adherent yellowish scales, peripheral pustules, and a deep, large ulcer with undermined borders and purulent discharge (fig 1). She had this lesion for 2 months but in the last week she complained of general malaise, had fever and exhibited cervical lymphadenopathy. The mother recalled that it biggened with several nodular lesions that ultimately ulcerated with drainage.

She had just arrived from a rural and wetland area of Brazil, where she had close contact with soil as her family were farmers and had a domestic cat.

The patient was already with oral amoxicillin for one week, without improvement, which prompted admission for inpatient care.

Multi-resistant Pseudomonas aeruginosa and methicillin-susceptible Staphylococcus aureus were isolated from the purulent discharge, and therefore intravenous cefepime was prescribed. As the clinical suspicion of kerion was high, fluconazole was added. Later, polymerase chain reaction identified Sporothrix schenkii in the purulent discharge¸ and antifungal treatment was changed to itraconazole. Finally, Tricophyton mentagrophytes was isolated in the mycological culture of perilesional hairs.

The child was discharged 3 weeks later with clinical improvement, maintaining oral itraconazole for an additional 4 months, at which point complete resolution was observed followed by progressive hair growth.

Key Learning Points:

Sporotrichosis is a subacute/chronic infection, endemic in tropical areas, caused by the dimorphic geophilic fungi Sporothrix schenckii, which is a common saprophyte of soil. The transmission can also be zoonotic, mainly by infected cats. This case had an invaluable contribution from molecular biology for the establishment of a correct and complete diagnosis.

Title of Case(s):

Alopecia and facial follicles after kidney transplant: when it gets under the skin

Background:

Post-transplant immunosuppression increases the risk on opportunistic infections, and should be considered when children present with atypical skin problems.

Case Presentation Summary:

A 9-years old girl underwent a kidney transplant for end stage renal failure secondary to focal segmental glomerulosclerosis (FSGS). Her immunosuppressive regimen consisted of mycophenolic acid (MMF), tacrolimus, steroids and a short course of rituximab for early post-transplant rejection. 7 months after transplant, she developed eyebrow and hair loss, along with small erythematous papules with prominent spicules involving her nose, scalp, trunk and arms. The papules were pruritic and markedly impaired her self-esteem. There were no signs of systematic disease.

Our differential diagnosis included steroid toxicities, Trichodysplasia Spinulosa (TS), Keratosis pilaris atropicans and cutaneous graft versus host disease. Skin biopsy revealed abnormal hair follicles with extensive debris and eosinophilic cells with trichohyalin granules. This was highly suggestive of skin infection caused by Trichodysplasia spinulosa polyomavirus (TSPyV), an increasingly recognized dermatologic complication of immunosuppression. Ultimate therapy is cessation of immunosuppressive therapy when possible, as antiviral therapy often results in limited improvement. In our patient, MMF was discontinued. Short-term valganciclovir was commenced without effect, followed by leflunomide. Ultimately topical cidofovir was started under compassionate use, with application limited to her face due to prohibitive costs. After 3 months her facial symptoms and alopecia improved. She stopped applying cidofovir as no further improvement was noticed. At 12 month follow up she had some residual facial and trunk lesions but was overall doing much better. MMF was restarted at half-dose with no worsening of TS symptoms.

Key Learning Points:

1. TS is an opportunistic, viral skin infection, characterized by folliculocentric papules primarily involving the face and alopecia of eyebrows and eyelashes.

2. While TS diagnosis is primarily clinical, skin biopsy is helpful for diagnostic clarity.