Table 1.

The clinical features of children with SCD in the literature and in our study

	present case	Mohanty [1]	Arunath V [2]	Cui J [3]	Cui J [3]	Suliman OSM [14]	Manjunatha Yc [15]	Licht [16]
gender	female	female	male	female	female	male	female	male
Age onset	13 years old	12 years old	4 years old	13 years old	6 years old	12-year-old	three and half years old	14 years old
Past history	megloblastic anemia	Glossitis and loose	silent α-thalassaemia carrier			gastroenteritis	persistent of diarrhea	Vegan diet
Clinical features	Weakness and walking difficulty	a stamping gait, swaying side-to-side while walking	worsening difficulty in walking for two weeks	unsteady walking	unsteady gait, fell easily	pain and heaviness in both lower limbs and tingling sensations on both feet, developing into completely bedridden	decreased activity and paucity of movements	Stumbling frequently and requiring assistance walking
Physical examination	Pallor, power grade 2/5 in lower limbs, motor, touch and position sense were disappeared in the distal end of lower limbs. Active bilateral knee reflexes, positive Babinski Signs, welling and pain of left ankle, knee and elbow joint were observed	pallor, knuckle hyperpigmentation and glossitis. wide-based gait with positive Babinski Sign and Romberg’s sign	generalised hypotonia, grade 4 muscle power in lower limbs, exaggerated knee jerk, extensor plantar response bilaterally	hypoesthesia, inability to perform fine movements with the hands, unwillingness to interact with other human beings,	Bilateral knee tendon reflex was decreased. the heel-to-shin and Romberg tests were abnormal. The joint position sense of the lower limbs was impaired. He did not cooperate for the vibration sense investigation	Pale, dehydration with severe wasting, Lower limbs showed generalised weakness with power grade 3/5, hypotonia with absent deep tendon reflexes at knees and ankles but with a positive Babinski sign. Impaired position sense	pallor, bilateral lower limbs were areflexia and flaccid paraparesis with upgoing plantar reflexes dysmetria and truncal ataxia.	Deep tendon reflexes were 2 + in the upper extremities and absent in the lower extremities. Impaired joint position sense in the lower extremities, a positiveRomberg sign.
Blood routine	HB 7.4gd/l	HB 7.7 g/dl, macrocytosis	HB 6.8 g/dL	normal	HB 9.9 g/dL	HB 9.5 g/dl	HB 7 mg/dl	normal
Vit B12	13pg/ml	< 60pg/ml	116 pg/ml	normal	normal	Normal(may be associated with dehydration)	< 150pg/ml	281pg/ml(normal)
Bone marrow examination	megloblastic anemia	Not mentioned	megaloblastic erythropoiesis giant metamyelocytes	Not mentioned	Not mentioned	microcytic hypochromic anaemia	Arrest of maturation.	Not mentioned
Spinal cord MRI	typical inverted ‘V’ sign of the cervical spinal cord in transverse view	Hyperintense signals in the posterior aspect of the cord in the midline,	symmetrical T2-weighted high signal intensity in the posterior column and characteristic ‘inverted V sign”	Symmetrical long T2 signals in the posterior portion of the spinal cord in the 2 to 6 vertebral bodies.	an abnormally long T2 weighted image signal in the posterior columns from T8 to T11. (“inverted ‘V’ signs	Not mentioned	abnormal diffuse hyperintensity involving the posterior aspect of the spinal cord in T2 weighted images(inverted ‘V’ sign)	Normal
Nerves conduction velocity	Bilateral sural nerve sensory conduction was absence	normal	normal	Not mentioned	Not mentioned	Not mentioned	delayed motor conduction	mild slowing of the conduction velocities in the sural nerve
Other features	LDH 1450 U/L Positive IFA and PCA and pANCA, elevated TPOAb and TgAb	LDH 1804 U/L	analysis revealed urine albumin 2 +, non-nephrotic range proteinuria	Two MMACHC mutation. Elevated serum propionyl-carnitine C3/C2 levels, homocysteine level, methylmalonic acid, C3, and homocysteine suggested endogenous vitamin B12 deficiency	Two MMACHC mutation, raised TPOAb and Urinary methylmalonic acid with propionylcarnitine C3 and C3/C2, High methylmalonic acid and serum homocysteine were observed	high anti-tissue transglutaminase (tTG) IgA levels, positive anti-endomyseal antibodies	reduced visual evoked response	Increased methylmalonic acid, 2- methylcitric acid, total homocysteine and cystathionine
etiology	Autoimmune Polyglandular Syndrome Type 3b	Not mentioned	Imerslund-Gräsbeck syndrome	late-onset CblC disorder	late-onset CblC disorder	coeliac disease		Cobalamin deficiency
treatments	intravenous methylprednisolone impulse therapy, intravenous immunoglobulin, naproxen followed by hydroxychloroquine, vitamin B12 and levothyroxine sodium tablets supplementation, blood transfusion and rehabilitation.	injection Cyanocobolamine 1000 mg intramuscularly daily for 2 weeks, followed by 1000 mg weekly for a month followed by 1000 mg monthly	Intramuscular hydroxocobalamin 1 mg daily for two weeks followed by 1 mg weekly for eight weeks and then 1 mg monthly	500ug methycobalamin was injected every day. L-carnitine 1 g twice a day, intramuscular injection of vitamin B12 twice a week, and betaine orally wereadded to the treatment	500ug methycobal was injected every day. methylcobalamin 500 mg intravenous injection	fluid resuscitation, intravenous methylprednisolone 2 mg/kg/day over 2 days then with oral prednisolone over 2 weeks. Intramuscular (IM) vitamin B12 daily for 1 week, then once per week for 1 month	vitamin B12 injections.	Cobalamin (1 mg IM per day)

HB: hemoglobin; LDH: lactate dehydrogenase; IFA: Anti-intrinsic factor antibody; PCA: anti-parietal cell antibody; IM:.intramuscular; pANCA: Perinuclear anti-neutrophil cytoplasmic antibody; MRI: magnetic resonance image; TPOAb: anti-thyroid peroxidase antibody antibodies; TgAb: anti-thyroid globulin antibody; TSH: thyroid stimulating hormone