|Year : 2017 | Volume
| Issue : 3 | Page : 797-801
Anesthesia management of a child with osteopetrosis
Hashem Jarineshin, Fereydoon Fekrat, Mehdi Feiz Dowlat Abadi
Anesthesiology, Critical Care and Pain Management Research Center, Hormozgan University of Medical Sciences, Bandar Abbas, Iran
|Date of Web Publication||22-Nov-2016|
Mehdi Feiz Dowlat Abadi
Anesthesiology, Critical Care and Pain Management Research Center, Hormozgan University of Medical Sciences, Bandar Abbas 7919915519
Source of Support: None, Conflict of Interest: None
| Abstract|| |
Osteopetrosis is a rare genetic disorder of osteoclast dysfunction leading to anatomical and physiological disorders. We present the anesthesia management for the femur fracture of a 4-year-old girl with malignant infantile type of osteopetrosis. She had a ventriculoperitoneal shunt, impaired motion, visual disturbance, growth failure, facial deformity, heart murmur of moderate tricuspid regurgitation, and left ventricular heart failure, with splenomegaly and severe anemia.
Keywords: Airway management, bone fracture, osteopetrosis
|How to cite this article:|
Jarineshin H, Fekrat F, Abadi MF. Anesthesia management of a child with osteopetrosis. Anesth Essays Res 2017;11:797-801
| Introduction|| |
The term osteopetrosis is derived from the Greek word “osteo” meaning bone and “petros” meaning stone. Osteopetrosis is also known as “marble bone disease,” “osteosclerosis,” and “Albers-Schonberg disease.”
The anesthesia literature contains little discussion and few recommendations for the management of these patients. The main problem in this disease is inability in effective bone resorption and regeneration, leading to anatomical and physiological disorders.,
Osteopetrosis has three clinical types: The malignant infantile type of osteopetrosis has poor prognosis and is inherited as an autosomal recessive genetic trait and the intermediate type and benign adult type of osteopetrosis have similar but milder clinical manifestations [Table 1] and [Table 2].,, We present a case report of an osteopetrosis child who needed a general anesthesia management for a femur fracture which illustrated the possibility of handling this type of patient's airway less invasively.
|Table 1: Classification and anesthesia implications for autosomal dominant and autosomal recessive (intermediate type) osteopetrosis disease|
Click here to view
|Table 2: Classification and anesthesia implications for autosomal recessive (malignant type) osteopetrosis disease|
Click here to view
| Case Report|| |
A 4-year-old girl with 8 kg weight and 90 cm height admitted for femur fracture [Figure 1]. The onset of the disease was manifested at 6 months of age with a bulging anterior fontanel due to hydrocephalus with a subsequent ventriculoperitoneal shunting. Physical examination revealed short stature, growth delay, facial deformity, optimal mouth opening and neck extension, heart murmur grade III/VI, and splenomegaly. Heart and respiratory rates of the patient were 150/min and 20/min, respectively, with a 100/56 mmHg blood pressure. Laboratory results of the patients at the baseline were as follows – hemoglobin: 3.5 g/dL (anisocytosis, hypochromia, ovalocytosis, and elliptocytosis) and platelet: 39 × 109/L, which reached to 9.1 g/dL and 91 × 109/L after receiving two units of blood and platelet, respectively. White blood cell: 8.6 × 103/μL, red blood cell: 3.9 × 106/μL, alkaline phosphatase: 1279 U/L, lactate dehydrogenase: 832 U/L, phosphorus 3.5 mg/dL, Na: 135 mEq/L, K: 4.2 mEq/L, and calcium 9.3 mg/dL.
|Figure 1: A 4-year-old girl with femur fracture due to osteopetrosis-related osteosclerotic bone changes|
Click here to view
Echocardiography showed that the left ventricle volume was increased and the left ventricular ejection fraction was 30–40%, moderate tricuspid regurgitation. Sonography showed normal-sized liver with splenomegaly. The patient was on medication: Captopril 2.5 mg PO three times daily and Lanoxin (digoxin) 8 cc PO two times daily. Because of the femur fracture, the patient was candidate for applying a Spica cast under general anesthesia.
Due to the probability of difficult airway management (regarding facial abnormality), necessary precautions were made in the setting of anesthesia before induction [Figure 2].
|Figure 2: Facial appearance with lower hyperplasic jaw, restricted temporomandibular joint, obliterated nasal passage, mandibular abnormalities with hypoplasia, macrocephaly, and hypertelorism|
Click here to view
The equipment for difficult airway management was included into the preparation setting which were laryngoscopes with Mackintosh and Miller types blades (sizes 0-2), ventilation face masks sizes 1-2, stylets with endotracheal tubes sizes 3.5-4.5 mm ID (un-cuffed), a pediatric size Glidescope and fiberoptic, percutaneous jet-ventilation catheter.
Before anesthesia induction, the patient was monitored with electrocardiography, noninvasive blood pressure, oxygen saturation (SpO2), and end-tidal carbon dioxide (ETCO2). Balanced isotonic solution was administered with a rate of 10 cc/kg perioperatively due to heart failure during the anesthesia management.
Midazolam 0.15 mg/kg and fentanyl 1 μg/kg with 0.02 mg/kg atropine were administered as premedication. General anesthesia was induced and maintained by ketamine 1 mg/kg. The patient was ventilated by an anesthesia face mask. During the anesthesia, the heart rate was 110–120/min, blood pressure 100/70 mmHg, SPO2 = 99%, and ETCO2 28–30 mmHg. The course of anesthesia and recovery was uneventful.
| Discussion|| |
Classic malignant autosomal type which occurs in infants and younger children is accompanied by multiple significant pathologies which are common and maybe sever. Bone resorption prevents the enlargement of bone pores, resulting in bone marrow damage that is associated with hematological disorders. Bone foramina put pressure on cranial nerves and lead to visual and hearing impairments and cranial nerve palsies. Among the other signs of this disease are failure to thrive, anemia, thrombocytopenia, hypokalemia, hepatosplenomegaly, esotropia, amblyopia, extramedullary hematopoiesis, and pathological fractures [Figure 3].
|Figure 3: Bone changes and pathological fractures along with failure to thrive, anemia, thrombocytopenia, hepatosplenomegaly, and extramedullary hematopoiesis|
Click here to view
A number of patients present with neurological symptoms such as seizures, hypotonia, retinal atrophy with absent evoked visual potentials, neural sensory-based deafness, significantly delayed myelination, diffuse progressive cortical and subcortical atrophy.
Four prior reports related to structural brain malformations in autosomal recessive osteopetrosis (ARO) patients have been published.,,
Reports of ARO variants (neuropathic ARO) with structural brain anomalies included macrocephaly, hypertelorism, agenesis of the corpus callosum, hydrocephalus, and Dandy–Walker malformation. Classical ARO is caused by TCIRG1 mutations.
Pathologic bone remodeling, which causes greater mineral density and compressive strength, lacks the needed elasticity and as a result pathologic bone fracture develops which is the hall mark of osteopetrosis.,,
Hematopoietic stem cell transplantation may reduce the difficult airway-related problems in subsequent anesthesia procedures, but this has not been confirmed yet.
Patients with severe pancytopenia may develop heart failure or sepsis. A forward flow theory due to splenomegaly is considered to explain the etiology of portal hypertension in osteopetrosis patients.(22) Although controversial captopril has been used for the treatment of portal hypertension in patients with low portal variceal velocity to prevent complications of variceal bleeding. Osteopetrotic patients may develop hypertension and left ventricular heart failure, as in our patient, for which captopril and digoxin are commonly administered.
Difficult airway management and failed intubation have been reported in 17.7% and 14.5% of cases, respectively. Moreover, the chance of intubation failure has been reported to be higher in osteopetrosis children than other children. In a report, the incidence of respiratory-related problems was 11% which included critical airway management and hypoxemia. However, the rate of respiratory problems was reported to be only 2% of children younger than 8 years among pediatric surgical patients.
Factors that are related to difficult airway management in osteopetrosis patients can be due to mandibular abnormalities with hypoplasia. The space between the tongue and the posterior pharyngeal wall can also be narrow. A high arched, narrow hard palate, an obliterated nasal passage due to congestion, wide lower hyperplasic jaw, restricted temporomandibular joint movement, and cervical spine fractures may cause difficult endotracheal intubation. Hepatosplenomegaly-induced abdominal distention may also lead to ventilation difficulty.
Equipment and methods (e.g., awake intubation) required for a difficult intubation and possibility of tracheal aspiration must be taken into account. Our particular patient did not pose any difficulty or adverse event during the anesthesia besides the administration of atropine may have suppressed the oral secretions. The child's conditions were favorable with face mask ventilation. Complete fasting conditions, short duration of the procedure, and no electrolyte abnormalities permitted a smooth course of anesthesia with no impending need for a more advanced airway management as the mask ventilation was adequate, and the patient's oxygenation and end tidal carbon dioxide levels were in normal range.
| Conclusion|| |
Despite the possibility of critical airway management in osteopetrosis patients who have premorbid conditions such as heart failure and central nervous system involvement, it can be handled less invasively under general anesthesia.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Rajathi M, Austin R, Mathew P, Bharathi C, Srivastava K. Autosomal-dominant osteopetrosis: An incidental finding. Indian J Dent Res 2010;21:611.
] [Full text]
Ozer AB, Erhan OL, Demirel I, Ozcan S. Administration of general anaesthesia to a paediatric patient with osteopetrosis. BMJ Case Rep 2012;2012.
Kant P, Sharda N, Bhowate RR. Clinical and radiological findings of autosomal dominant osteopetrosis Type II: A Case Report. Case Rep Dent 2013;2013:707343.
Burt N, Haynes GR, Bailey MK. Patients with malignant osteopetrosis are at high risk of anesthetic morbidity and mortality. Anesth Analg 1999;88:1292-7.
Carter M, Stokes D, Wang W. Severe obstructive sleep apnea in a child with osteopetrosis. Clin Pediatr (Phila) 1988;27:108-10.
Lam D, Sándor G, Holmes H, Carmichael R, Clokie C. Marble bone disease: A review of osteopetrosis and its oral health implications for dentists. J Can Dent Assoc 2007;73:839.
Geyser PG, Hugo JM, Ingram H. Anaesthetic management in sclerosteosis. A case report. S Afr Med J 1982;61:488.
Lam DK, Sándor GK, Holmes HI, Carmichael RP, Clokie CM. Marble bone disease: A review of osteopetrosis and its oral health implications for dentists. J Can Dent Assoc 2007;73:839-44.
Burgoyne LL, Kaur A, Billups CA, Parish ME, Kaddoum RN, Bikhazi GB, et al.
Complications of anesthesia for children with malignant infantile osteopetrosis before and after hematopoietic stem cell transplantation. Paediatr Anaesth 2010;20:1046-51.
Al-Tamimi YZ, Tyagi AK, Chumas PD, Crimmins DW. Patients with autosomal-recessive osteopetrosis presenting with hydrocephalus and hindbrain posterior fossa crowding. J Neurosurg Pediatr 2008;1:103-6.
Maranda B, Chabot G, Décarie JC, Pata M, Azeddine B, Moreau A, et al.
Clinical and cellular manifestations of OSTM1-related infantile osteopetrosis. J Bone Miner Res 2008;23:296-300.
Rees H, Ang LC, Casey R, George DH. Association of infantile neuroaxonal dystrophy and osteopetrosis: A rare autosomal recessive disorder. Pediatr Neurosurg 1995;22:321-7.
Ben Hamouda H, Sfar MN, Braham R, Ben Salah M, Ayadi A, Soua H, et al.
Association of severe autosomal recessive osteopetrosis and Dandy-Walker syndrome with agenesis of the corpus callosum. Acta Orthop Belg 2001;67:528-32.
Abinun M, Pieniazek P. Successful haematopoietic stem cell transplantation for osteopetrosis due to TCRIG1 mutation. Arch Dis Child 2010;95:984.
Stark Z, Pangrazio A, McGillivray G, Fink AM. Association of severe autosomal recessive osteopetrosis and structural brain abnormalities: A case report and review of the literature. Eur J Med Genet 2013;56:36-8.
Mikami T, Miake Y, Bologna-Molina R, Takeda Y. Ultrastructural analyses of alveolar bone in a patient with osteomyelitis secondary to osteopetrosis: A review of the literature. J Oral Maxillofac Surg 2016;74:1584-95.
Einhorn TA. Bone strength: The bottom line. Calcif Tissue Int 1992;51:333-9.
Kahler SG, Burns JA, Aylsworth AS. A mild autosomal recessive form of osteopetrosis. Am J Med Genet 1984;17:451-64.
Baik SK, Park DH, Kim MY, Choi YJ, Kim HS, Lee DK, et al.
Captopril reduces portal pressure effectively in portal hypertensive patients with low portal venous velocity. J Gastroenterol 2003;38:1150-4.
Otero JE, Gottesman GS, McAlister WH, Mumm S, Madson KL, Kiffer-Moreira T, et al.
Severe skeletal toxicity from protracted etidronate therapy for generalized arterial calcification of infancy. J Bone Miner Res 2013;28:419-30.
Murat I, Constant I, Maud'huy H. Perioperative anaesthetic morbidity in children: A database of 24,165 anaesthetics over a 30-month period. Paediatr Anaesth 2004;14:158-66.
Stocks RM, Wang WC, Thompson JW, Stocks MC 2nd
, Horwitz EM. Malignant infantile osteopetrosis: Otolaryngological complications and management. Arch Otolaryngol Head Neck Surg 1998;124:689-94.
Mazzolari E, Forino C, Razza A, Porta F, Villa A, Notarangelo LD. A single-center experience in 20 patients with infantile malignant osteopetrosis. Am J Hematol 2009;84:473-9.
Wong ML, Balkany TJ, Reeves J, Jafek BW. Head and neck manifestations of malignant osteopetrosis. Otolaryngology 1978;86 (4 Pt 1):ORL-585-94.
Inati A, Akoury G, Khalife H, Gemayel G. A 3-month-old infant with gingival hypertrophy and hepatosplenomegaly. Osteopetrosis. Pediatr Ann 2008;37:376-8, 380-1.
[Figure 1], [Figure 2], [Figure 3]
[Table 1], [Table 2]