Rare disease
CASE REPORT
‘Diabetic ketoacidosis may not always be the answer…’ Deirdre Philbin, Edina Moylett Department of Paediatrics, University College Hospital Galway, Co Galway, Ireland Correspondence to Dr Deirdre Philbin, [email protected] Accepted 28 September 2014
SUMMARY We present the interesting case of a 9-year-old boy with type 1 diabetes mellitus. He presented to the emergency department extremely unwell and the diagnosis of diabetic ketoacidosis was promptly performed. He was started on the local diabetic ketoacidosis (DKA) protocol, but his recovery remained slow. The possibility of an underlying pathology was later addressed and led to the diagnosis of primary adrenal insufficiency. This case highlights the difficulty in diagnosis of childhood Addison’s disease due to its vague and non-specific symptoms and the importance of a high degree of clinical suspicion. This case also highlights the existence of autoimmune polyendocrine syndromes and the ongoing need to increase awareness and screening of these conditions.
BACKGROUND This case demonstrates a presentation of primary adrenal insufficiency which was initially treated as a diabetic ketoacidosis. Primary adrenal insuffiency is known to have wide variations in presentation which unfortunately, can frequently lead to delayed and misdiagnoses. We aim to highlight one such presentation. This case also emphasises the need for clinicians to be aware of autoimmune polyendocrine syndromes and thus, to consider coexisting autoimmune conditions in their differential diagnoses.
CASE PRESENTATION
To cite: Philbin D, Moylett E. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206344
A 9-year-old boy, presented to the emergency department with a 1-day history of nausea, lethargy and mild headache. He had a known history of type 1 diabetes mellitus which was diagnosed when he was aged 2. His blood sugar readings at home had all been within normal limits and he was fully compliant with his insulin regime. The patient mother reported that he woke up feeling unwell and had one episode of vomiting prior to his presentation to the emergency department. His initial blood sugar reading on arrival was 13.6 mmol/L and urinalysis showed 4+ ketones. The patient did not have any diarrhoea, respiratory nor urinary symptoms. His current insulin regime was insulin detemir (Levemir) 14 units at night and insulin aspart (Novorapid) 5 units three times daily. He had a medical history of diabetic ketoacidosis (aged 7 years) secondary to gastroenteritis. He had also required intensive care unit admission (aged 5 years) due to pneumococcal sepsis.
Of note, his father had died from sudden adult death 1 year previously. The patient had been seen in the diabetic outpatients 2 months prior to this presentation. His glycated haemoglobin reading at this time was 8%.
INVESTIGATIONS Physical examination revealed a confused and restless state. He had dry mucous membranes. His vital signs demonstrated hyperthermia (temperature 38.7°C) with tachycardia ( pulse rate=135 bpm) and tachypnoea (respiratory rate=35 breaths/min). A thready pulse was noted. His oxygen saturations were 99% on room air. Cardiovascular examination revealed a soft pansystolic murmur at the left lower sternal edge. Respiratory examination demonstrated grossly clear lungs despite poor inspiratory effort. His abdomen was soft but mild tenderness was elicited in all four quadrants. There was no rigidity or rebound tenderness. Neurological examination revealed a Glasgow coma score of 14/15 with equal and reactive pupils. Tone, power, coordination and reflexes were normal in all four limbs. No meningeal signs were elicited. His venous blood gas demonstrated a metabolic acidosis with respiratory compensation. pH=7.3, pCO2=5.25 kPa and pO2=3.41 kPa. HCO3 was 17.8 mmol/L and base excess was 6.7 mmol/L. His lactate was elevated at 3.4 mmol/L. Glucose was 13.4 mmol/L (table 1). His serum electrolytes demonstrated hyponatraemia (sodium =124 mmol/L). Serum potassium was 4.8 mmol/L. His full blood count revealed normal white cell and platelet counts. Renal function tests showed urea=9.7 mmol/L and creatinine=76 μmol/L. Liver function tests were normal. C reactive protein was elevated at 45 mg/L (table 2).
Table 1 Venous blood gas results at presentation: (reference ranges for child aged 6–12 years) pH pCO2 pO2 HCO− 3 Base excess Lactate Glucose
Philbin D, et al. BMJ Case Rep 2014. doi:10.1136/bcr-2014-206344
7.30 5.25 kPa 3.41 kPa 17.8 mmol/L 6.7 mmol/L 3.4 mmol/L 13.4 mmol/L
(7.33–7.43) (5.5–6.8 kPa) (4–5.3 kPa) (22–26 mmol/L) (−3 to +3 mmol/L) (0.5–2.2 mmol/L) (3.0–6.0 mmol/L)
1
Rare disease Table 2 Laboratory results at presentation: (reference ranges for child aged 6–12 years) Haemoglobin White cell count Platelets C Reactive protein Na+ K+ Cl− Urea Creatinine
14.5 g/L 8.5×109/L 317×109/L 45 mg/L 124 mmol/L 4.8 mmol/L 89 mmol/L 9.7 mmol/L 76 μmol/L
(11.5–15.5 g/L) (4.5–14.5×109/L) (150–450×109/L) (11 mmol/L) and metabolic acidosis (venous pH
CASE REPORT
‘Diabetic ketoacidosis may not always be the answer…’ Deirdre Philbin, Edina Moylett Department of Paediatrics, University College Hospital Galway, Co Galway, Ireland Correspondence to Dr Deirdre Philbin, [email protected] Accepted 28 September 2014
SUMMARY We present the interesting case of a 9-year-old boy with type 1 diabetes mellitus. He presented to the emergency department extremely unwell and the diagnosis of diabetic ketoacidosis was promptly performed. He was started on the local diabetic ketoacidosis (DKA) protocol, but his recovery remained slow. The possibility of an underlying pathology was later addressed and led to the diagnosis of primary adrenal insufficiency. This case highlights the difficulty in diagnosis of childhood Addison’s disease due to its vague and non-specific symptoms and the importance of a high degree of clinical suspicion. This case also highlights the existence of autoimmune polyendocrine syndromes and the ongoing need to increase awareness and screening of these conditions.
BACKGROUND This case demonstrates a presentation of primary adrenal insufficiency which was initially treated as a diabetic ketoacidosis. Primary adrenal insuffiency is known to have wide variations in presentation which unfortunately, can frequently lead to delayed and misdiagnoses. We aim to highlight one such presentation. This case also emphasises the need for clinicians to be aware of autoimmune polyendocrine syndromes and thus, to consider coexisting autoimmune conditions in their differential diagnoses.
CASE PRESENTATION
To cite: Philbin D, Moylett E. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2014206344
A 9-year-old boy, presented to the emergency department with a 1-day history of nausea, lethargy and mild headache. He had a known history of type 1 diabetes mellitus which was diagnosed when he was aged 2. His blood sugar readings at home had all been within normal limits and he was fully compliant with his insulin regime. The patient mother reported that he woke up feeling unwell and had one episode of vomiting prior to his presentation to the emergency department. His initial blood sugar reading on arrival was 13.6 mmol/L and urinalysis showed 4+ ketones. The patient did not have any diarrhoea, respiratory nor urinary symptoms. His current insulin regime was insulin detemir (Levemir) 14 units at night and insulin aspart (Novorapid) 5 units three times daily. He had a medical history of diabetic ketoacidosis (aged 7 years) secondary to gastroenteritis. He had also required intensive care unit admission (aged 5 years) due to pneumococcal sepsis.
Of note, his father had died from sudden adult death 1 year previously. The patient had been seen in the diabetic outpatients 2 months prior to this presentation. His glycated haemoglobin reading at this time was 8%.
INVESTIGATIONS Physical examination revealed a confused and restless state. He had dry mucous membranes. His vital signs demonstrated hyperthermia (temperature 38.7°C) with tachycardia ( pulse rate=135 bpm) and tachypnoea (respiratory rate=35 breaths/min). A thready pulse was noted. His oxygen saturations were 99% on room air. Cardiovascular examination revealed a soft pansystolic murmur at the left lower sternal edge. Respiratory examination demonstrated grossly clear lungs despite poor inspiratory effort. His abdomen was soft but mild tenderness was elicited in all four quadrants. There was no rigidity or rebound tenderness. Neurological examination revealed a Glasgow coma score of 14/15 with equal and reactive pupils. Tone, power, coordination and reflexes were normal in all four limbs. No meningeal signs were elicited. His venous blood gas demonstrated a metabolic acidosis with respiratory compensation. pH=7.3, pCO2=5.25 kPa and pO2=3.41 kPa. HCO3 was 17.8 mmol/L and base excess was 6.7 mmol/L. His lactate was elevated at 3.4 mmol/L. Glucose was 13.4 mmol/L (table 1). His serum electrolytes demonstrated hyponatraemia (sodium =124 mmol/L). Serum potassium was 4.8 mmol/L. His full blood count revealed normal white cell and platelet counts. Renal function tests showed urea=9.7 mmol/L and creatinine=76 μmol/L. Liver function tests were normal. C reactive protein was elevated at 45 mg/L (table 2).
Table 1 Venous blood gas results at presentation: (reference ranges for child aged 6–12 years) pH pCO2 pO2 HCO− 3 Base excess Lactate Glucose
Philbin D, et al. BMJ Case Rep 2014. doi:10.1136/bcr-2014-206344
7.30 5.25 kPa 3.41 kPa 17.8 mmol/L 6.7 mmol/L 3.4 mmol/L 13.4 mmol/L
(7.33–7.43) (5.5–6.8 kPa) (4–5.3 kPa) (22–26 mmol/L) (−3 to +3 mmol/L) (0.5–2.2 mmol/L) (3.0–6.0 mmol/L)
1
Rare disease Table 2 Laboratory results at presentation: (reference ranges for child aged 6–12 years) Haemoglobin White cell count Platelets C Reactive protein Na+ K+ Cl− Urea Creatinine
14.5 g/L 8.5×109/L 317×109/L 45 mg/L 124 mmol/L 4.8 mmol/L 89 mmol/L 9.7 mmol/L 76 μmol/L
(11.5–15.5 g/L) (4.5–14.5×109/L) (150–450×109/L) (11 mmol/L) and metabolic acidosis (venous pH
