case 2: an unusual presentation of an unusual condition (case presentation)

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Acta Pædiatrica ISSN 0803–5253 QUEST FOR THE DIAGNOSIS - CASE PRESENTATION Case 1: Psychological feeding disorder? (Case Presentation) I Seerat ([email protected]) 1 , Etsuro Yazaki 2 , Vanessa Parsons 3 , NJ Meadows 3 1.92-Empress Avenue, Ilford, Essex. IG1 3DF, United Kingdom 2.Wingate Institute, Centre for Gastroenterology, Barts and the London School of Medicine and Dentistry, Queen Mary university of London, United Kingdom 3.Department of Paediatric Gastroenterology, First Floor, David Hughes Building, The Royal London Hospital, Whitechapel, London. E1 1BB, United Kingdom Correspondence I Seerat, 92-Empress Avenue, Ilford, Essex. IG1 3DF, United Kingdom. Tel: +02085186305 | Fax: +02085146407 | Email: [email protected] Received 28 October 2007; accepted 25 February 2008. DOI:10.1111/j.1651-2227.2008.00779.x The Discussion and Diagnosis can be found on page 827. CASE We report a 9-year-old girl who was initially referred to her local hospital psychologist by her general practitioner (GP) for a possible eating disorder. She had a history of persistent vomiting, intermittent constipation and the routine blood tests were reported as normal. Her weight dropped off the centiles (0.4th centile) and she was then referred to the feed- ing clinic at our hospital. She had an assessment by our feeding team (speech and language therapist, dietician, psy- chologist and the consultant paediatric gastroenterologist) and investigations for failure to thrive (coeliac disease, cys- tic fibrosis, immunodeficiency, metabolic, genetic etc) which were reported as normal. She was then investigated further for possible intestinal pseudo-obstruction. The results of her investigations are listed in Table 1. Following investigations, she was started on PEG-J feeds. She suffered from 1–2 acute life-threatening attacks due to choking while she was on PEG-J feeds requiring resuscita- tion at her local hospital. Following transfer to our unit she developed stridor. Microlaryngoscopy and bronchoscopy re- vealed no evidence of tracheo-oesophageal fistula and her stridor was due to a disco-ordinate larynx secondary to her gastro-oesophageal reflux. Due to intolerance of PEG J feeds and continuing weight loss she was commenced on parenteral nutrition. Her breakthrough symptoms of reflux with choking continued despite medical treatment and vent- ing of gastrostomy. She therefore underwent a partial fun- doplication and remained parenteral nutrition dependent. There was a delay of more than 2 years in diagnosing this patient. Table 1 Investigations for chronic intestinal pseudo-obstruction Investigation Result 1. Gastric emptying study Delayed 2. Electrogastrogram Normal 3. Barium study Oesophageal dysmotility (as shown in Fig. 1) 4. pH study Severe gastro-oesophageal reflux 5. Upper intestinal endoscopy Normal 6. Small bowel manometry Enteric neuropathy – significant number of cluster contractions especially in nocturnal periods along with seven episodes of high- amplitude contractions (bursts) lasting for 20–30 min 7. Full thickness Jejunal biopsy Normal 692 C 2008 The Author(s)/Journal Compilation C 2008 Foundation Acta Pædiatrica/Acta Pædiatrica 2008 97, pp. 692–694

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Page 1: Case 2: An unusual presentation of an unusual condition (Case Presentation)

Acta Pædiatrica ISSN 0803–5253

QUEST FOR THE DIAGNOSIS - CASE PRESENTATION

Case 1: Psychological feeding disorder? (Case Presentation)I Seerat ([email protected])1, Etsuro Yazaki2, Vanessa Parsons3, NJ Meadows3

1.92-Empress Avenue, Ilford, Essex. IG1 3DF, United Kingdom2.Wingate Institute, Centre for Gastroenterology, Barts and the London School of Medicine and Dentistry, Queen Mary university ofLondon, United Kingdom3.Department of Paediatric Gastroenterology, First Floor, David Hughes Building, The Royal London Hospital, Whitechapel, London.E1 1BB, United Kingdom

CorrespondenceI Seerat, 92-Empress Avenue,Ilford, Essex. IG1 3DF, United Kingdom.Tel: +02085186305 |Fax: +02085146407 |Email: [email protected]

Received28 October 2007; accepted 25 February 2008.

DOI:10.1111/j.1651-2227.2008.00779.x

The Discussion and Diagnosis can be found on page 827.

CASEWe report a 9-year-old girl who was initially referred to herlocal hospital psychologist by her general practitioner (GP)for a possible eating disorder. She had a history of persistentvomiting, intermittent constipation and the routine bloodtests were reported as normal. Her weight dropped off thecentiles (0.4th centile) and she was then referred to the feed-ing clinic at our hospital. She had an assessment by ourfeeding team (speech and language therapist, dietician, psy-chologist and the consultant paediatric gastroenterologist)and investigations for failure to thrive (coeliac disease, cys-tic fibrosis, immunodeficiency, metabolic, genetic etc) whichwere reported as normal. She was then investigated furtherfor possible intestinal pseudo-obstruction. The results of herinvestigations are listed in Table 1.

Following investigations, she was started on PEG-J feeds.She suffered from 1–2 acute life-threatening attacks due tochoking while she was on PEG-J feeds requiring resuscita-tion at her local hospital. Following transfer to our unit shedeveloped stridor. Microlaryngoscopy and bronchoscopy re-vealed no evidence of tracheo-oesophageal fistula and herstridor was due to a disco-ordinate larynx secondary toher gastro-oesophageal reflux. Due to intolerance of PEG

J feeds and continuing weight loss she was commenced onparenteral nutrition. Her breakthrough symptoms of refluxwith choking continued despite medical treatment and vent-ing of gastrostomy. She therefore underwent a partial fun-doplication and remained parenteral nutrition dependent.There was a delay of more than 2 years in diagnosing thispatient.

Table 1 Investigations for chronic intestinal pseudo-obstruction

Investigation Result

1. Gastric emptying study Delayed2. Electrogastrogram Normal3. Barium study Oesophageal dysmotility (as shown in Fig. 1)4. pH study Severe gastro-oesophageal reflux5. Upper intestinal endoscopy Normal6. Small bowel manometry Enteric neuropathy – significant number of

cluster contractions especially in nocturnalperiods along with seven episodes of high-amplitude contractions (bursts) lasting for20–30 min

7. Full thickness Jejunal biopsy Normal

692 C©2008 The Author(s)/Journal Compilation C©2008 Foundation Acta Pædiatrica/Acta Pædiatrica 2008 97, pp. 692–694

Page 2: Case 2: An unusual presentation of an unusual condition (Case Presentation)

Seerat et al. Psychological feeding disorder?

Figure 1

C©2008 The Author(s)/Journal Compilation C©2008 Foundation Acta Pædiatrica/Acta Pædiatrica 2008 97, pp. 692–694 693

Page 3: Case 2: An unusual presentation of an unusual condition (Case Presentation)

Judd et al.

Case 2: An unusual presentation of an unusual condition(Case Presentation)O Judd ([email protected]), M Medcalf, T MalikDepartment of Otolaryngology, Derriford Hospital, Plymouth, United Kingdom

CorrespondenceOwen Judd, Specialist Registrar in ENT, DerrifordHospital, Plymouth, United Kingdom.Tel.: +44 7919174343 |Fax: +44 1752763185 |Email: [email protected]

Received1 December 2007; revised 24 February 2008;accepted 28 February 2008.

DOI:10.1111/j.1651-2227.2008.00776.x

The Discussion and Diagnosis can be found on page 828.

CASEA 14-year-old girl presented to the paediatricians follow-ing referral from her general practitioner. She had been un-well for several days with a painful, sore throat on swal-lowing. Tonsillitis had been diagnosed that had been treatedwith oral Penicillin V. Her sore throat had subsequently im-proved, but her swallowing was still uncomfortable. She wascomplaining of pain in her neck and lethargy, but had noneurological signs or symptoms.

On examination, she was pyrexial, but was not in respi-ratory distress and had a normal cardio-respiratory exami-nation. Her haemodynamic parameters were within normallimits for her age. Her tonsils and oral cavity were normal,but she had marked cervical lymphadenopathy. Blood anal-ysis revealed a mildly raised white cell count with a neu-trophilia and a thrombocytopaenia of 88 × 109/L. Inflam-matory markers were normal with a C-reactive protein of17 mg/L and her initial treatment was continued with intra-venous Co-amoxyclav.

The following day, she had developed trismus, torticol-lis and an erythematous swelling over the left angle of themandible and down over the anterior triangle of the neck.Repeat blood tests revealed stable inflammatory markers,but an increasing thrombocytopaenia of 22 × 109/L. A clot-ting screen was normal. The torticollis and neck pain becameworse. A subsequent ultrasound scan of the neck showedcervical lymphadenopathy and a thrombosed external jugu-lar vein (EJV), but a normal internal jugular vein (IJV). An-ticoagulation with Low-molecular weight heparin (LMWH)was instigated on haematologist’s advice.

Due to her general deterioration, intravenous Clin-damycin was added on microbiological advice followingnegative aerobic and anaerobic blood cultures from the timeof admission. A CT scan of the neck and chest was obtained.(Fig. 1) A plain chest X-ray was not performed initially as shedid not show signs of respiratory distress or chest disease.The chest was included in the CT scan primarily to examinethe venous system. The scan showed an EJV thrombosis withattenuation of the surrounding musculature. The rest of theintrathoracic venous system was normal. There was a pos-sibility of septic foci in the lungs reported. These were seen

Figure 1

as a few poorly defined nodular opacities of approximately1 cm in diameter in the periphery of the lungs in themid and lower lobes, without cavitation. The rest of thelung fields were unremarkable. Echocardiography was notperformed.

The decision was taken to operate to remove the throm-bosed EJV in order to prevent further septic emboli. Surgerywas performed and the left EJV was excised. It was shown,intraoperatively, to be filled with pus. The microbiologi-cal culture of the specimen was negative. The patient wasrestarted on LMWH and antibiotics and began to improve,continuing Co-amoxyclav alone for a further 2 weeks untilblood parameters and symptoms had completely resolved.Anticoagulation with warfarin was continued for only 6weeks, as the patient had sepsis rather than thrombus of theEJV. A thrombophilia screen was performed at follow-up bythe haematologists. This was normal. Follow-up radiologyinvolved a plain chest X-ray that showed resolution of theseptic emboli. She was discharged 20 days later and subse-quently fully recovered.

694 C©2008 The Author(s)/Journal Compilation C©2008 Foundation Acta Pædiatrica/Acta Pædiatrica 2008 97, pp. 692–694