menkes disease ( md ) is a disorder of copper metabolism due to atp7a gene mutation that leads to severe copper deficiency . deformed blood vessels can be found in many parts of the body , and intracranial hematoma is generally reported . we report a taiwanese boy with md who had recurrent spontaneous subserosal hematoma of ileum presenting as intestinal obstruction , with the 2 episodes 23 months apart . the defective copper metabolism causes dysfunction of a plenty of copper - dependent enzymes , giving rise to unique kinky hair appearance , progressive neurodegeneration , and connective tissue abnormalities . to our knowledge , this is the first report on recurrent subserosal hemorrhage of intestine in md . owing to the fragile structure of blood vessels , subserosal hematoma should be considered when patients with md having intestinal obstruction . menkes disease ( md ) is a rare neurodegenerative disorder caused by dysfunctional copper - transporting adenosine triphosphatase ( atpase ) , atp7a . multisystemic manifestations result from severe copper deficiency as the reduced copper ion within the enteral cell failed to be pumped into the peripheral circulation . lacking of copper - depending lysyl oxidase leads to unstable structure of connective tissues , and abnormal blood vessels at various sites including brain , neck , and limbs had been reported . subserosal hematoma is a relatively rare cause of intestinal obstruction , and most of the cases were related to coagulopathies or anticoagulants use . this is the first case of md with recurrent spontaneous subserosal hematoma of ileum , which induced intestinal obstruction . the institutional review board of mackay memorial hospital approved this study ( 16mmhis062 ) , and a written informed consent was obtained from the participant . a 3-year-1-month - old taiwanese boy was born to a 37-year - old g2p2 mother at 36  3/7 weeks gestation with the birth weight of 2620 g via cesarean section . the apgar score was 9 and 10 at 1 and 5 minutes , respectively . the prenatal examination and the result of newborn screening tests were normal . he has medical history of md confirmed by molecular study which showed atp7a gene point mutation [ c.3502 c > t ] when he was 7-month - old . the initial presentation which led to this diagnosis were focal seizure , hypotonia , and hypopigmented curly scalp hair when he was 5-month - old . tortuosity of bilateral internal carotid arteries and right middle cerebral artery were demonstrated by magnetic resonance angiography . other documented history in the previous hospitalizations included global developmental delay , hyperbilirubinemia , bilateral inguinal hernias , pectus excavatum , microcytic anemia , left side grade iii vesicoureteral reflux , diffuse multiple urinary bladder diverticula , gastroesophageal reflux , and osteopenia - related left distal femur fracture . when he was 1-year-2-month - old , the first episode of intestinal obstruction was presented as postprandial vomiting for 3 days . exploratory laparoscopy was performed , and a large subserosal hematoma was found at the ileum with proximal intestinal dilatation . feeding was started with extensive hydrolysate formula since the eleventh post - operative day and he was discharged 18 days after the operation . he was admitted again due to nonbilious vomiting for 3 times and decreased activity for 1 day this time . there was no fever , cough , bowel habit change , or contact history to persons with fever or gastroenteritis . physical examination showed soft but distended abdomen with visible bowel loops over the abdominal wall ( fig . 1 ) , decreased bowel sounds , regular heart beats with grade i systolic murmur , severely depressed sternum , and normal skin turgor . vital signs at admission were : body temperature 37.9 c , pulse rate 120/min , respiratory rate 26/min , and blood pressure 86/52 mm hg . initial laboratory data showed normocytic anemia ( hemoglobin 10.7  g / dl , mean corpuscular volume 85.6 fl ) , leukopenia ( 3.010/l ) , hypokelemia ( 3.3  meq / l ) , and slightly elevated c - reactive protein ( 1.3  mg / dl ; normal range < 0.8  mg / dl ) . support was conducted , and nasogastric tube was placed for decompression while the boy was kept nil per os . abdominal sonography showed diffused intestinal ileus with bowel wall thickening , but no intussusception or intra - abdominal mass was demonstrated . serial plain abdominal film revealed total obstruction of the intestine ; thus , ampicillin ( 200  mg / kg / day ) and cefotaxime ( 150  mg / kg / day ) were administered and exploratory laparotomy was done 1 day after admission . a large subserosal hematoma with proximal dilated bowel loop was found at the ileum approximate the site of the first hematoma ( fig . the hematoma was evacuated and the intestine looked healthy after releasing the mass ( fig . 3b ) . there was no laboratory evidence of bleeding tendency ( platelet count 14010/l , prothrombin time 11.5  seconds , inr 1.10 , activated partial thromboplastin time 29.5  seconds , bleeding time 330 ) . parenteral nutrition was started 2 days post - operation , and enteral feeding was started since the 12th post - operation day . full feeding was achieved 16 days after the operation and he was discharged 17 days after the operation . distended abdomen with visible bowel loops on the abdominal wall . plain abdominal film at admission showed segmental dilatation of jejunal loops . ( a ) a large subserosal hematoma with proximal dilated bowel loop at the ileum . md , also known as kinky hair disease , is a rare x - linked recessive disorder of copper metabolism caused by atp7a gene mutation , result in deficiency or dysfunction of the copper - transporting atpase , atp7a . progressive neurodegeneration is the main symptom , which included hypotonia , generalized myoclonic seizures , mental retardation , and prominent feeding difficulties . atp7a functions as an intracellular pump to transport copper into the trans - golgi network for incorporation into copper requiring enzymes , and also mediates copper exodus from cells . owing to the wide distribution of copper - requiring proteins , the impact of atp7a dysfunction is multisystemic . for the intestinal tract , the uptake of the reduced copper ion ( cu ) from the bowel lumen to the enteral cell via the high - affinity cu transporter is not changed , but failure to pump cu across the basolateral membrane into the peripheral circulation leads to the intestinal copper hyperaccumulation with severe copper deficiency in peripheral tissues . the formation , maturation , and stabilization of connective tissue are also affected by copper deficiency . copper plays a role in lysyl oxidase , which catalyzes the cross - linking of elastin and collagen fiber . aortas from copper - deficient animals and humans exhibit fissures and rupture due to altered architecture of elastic fiber , and tortuosity of the cerebral vessels is frequently noted in md . vascular events had been reported in various sites in md , including different pictures of intracranial hemorrhage , internal jugular phlebectasia presenting as unilateral neck masses , and brachial and iliac artery aneurysms . to our knowledge , this is the first report on recurrent subserosal hemorrhage of intestine in md . compared to the traumatic etiology , spontaneous intramural small bowel hematoma is rare , and most of the reported cases were related to coagulopathies or anticoagulants use . dieulafoy 's lesion , presenting as an ulcerated or polypoid lesion containing the caliber - persistent left gastric artery , can produce severe and even fatal hemorrhages . in 1 study describing the characteristics of small intestinal diseases on single - balloon enteroscopy , a total of 186 patients underwent 196 procedures . thirteen patients were found to have vascular malformation , with the mean age of 57.6 years old and the most common location of the lesions was in the jejunum . in 1956 , white and wollenman reported a 6-year - old boy with congenital hemangiomatous malformation with spontaneous subserosal hemorrhage of the jejunum , resulted in chronic intestinal obstruction . another 11-month - old boy presenting with subserosal hematoma leading to marked narrowing of the lumen and to intestinal obstruction was reported in 1960 by martins . our case is another one of the rarely reported case of spontaneous subserosal hematoma induced by the anomalous blood vessel . in md , although feeding difficulty is frequently encountered , any symptoms and signs of intestinal obstruction should be carefully observed and managed promptly and correctly . subserosal hematoma should be taken as one of the differential diagnosis of intestinal obstruction in these patients because of the fragile structure of blood vessels derived from copper deficiency .