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. 2024 Dec 19;24:817. doi: 10.1186/s12887-024-05262-4

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