TABLE 3.
Clinical features and laboratory evaluation of patients with HMNDYT
| Clinical features | Total (n = 27) | SLC30A10 mutations (n = 14) | SLC39A14 mutations (n = 9) |
|---|---|---|---|
| Median age (y) (IQR) | 4.3 (2.5–9.0) | 5.5 (2.7–9.8) | 2.3 (1.0–6.4) |
| Sex | |||
| Female (%) | 19 (70.4) | 10 (71.4) | 7 (77.8) |
| Median age at onset (y) (IQR) | 2.0 (1.5–5.0) | 2.0 (1.5–5.1) | 1.3 (0.7–5.5) |
| Prominent complaints | |||
| Gait abnormality/Falls | 21/18 | 12/14 | 4/− |
| Dystonia | 27 | 14 | 9 |
| Regression of milestones | 3 | 1 | 2 |
| Dysarthria | 3 | 2 | – |
| Abdominal a | 3 | 2 a | – |
| Seizures | 2 | – | 1 |
| Tremors | 5 | 2 | 1 |
| Non‐ambulatory at presentation | 2 | – | 2 |
| Consanguinity | |||
| Second degree/third degree | 3/18 | 1/11 | −/5 |
| Examination findings | |||
| Cognitive dysfunction | 3 | 1 | 1 |
| Motor system | |||
| Spasticity | 12 | 5 | 7 |
| Extrapyramidal system | |||
| Dystonia (generalized) | 27 (21) | 13 (12) | 10 (8) |
| Tremor | 5 | 2 | 1 |
| Parkinsonism | 16 | 11 | 4 |
| “Cock‐walk” gait | 8 | 6 | 2 |
| Chorea‐athetosis | 5 | 2 | 2 |
| Dysarthria | 8 | 6 | 2 |
| Incoordination | 4 | 2 | 2 |
| Abdominal examination | |||
| Hepatomegaly/Splenomegaly | 8 | 4 | 1 |
| Laboratory parameter | |||
| Hb (g/dL) | |||
| Mean | 12.8 | 16.1 | 11.7 |
| SD | 3.3 | 2.9 | 2.3 |
| Median | 13.8 | 16.3 | 12.5 |
| IQR | 11.4–16.4 | 15.2–17.5 | 8.8–13.2 |
| PCV | |||
| Mean | 42.1 | 48.5 | 36.2 |
| SD | 9.5 | 8.4 | 6.3 |
| Median | 40.8 | 49.5 | 37.5 |
| IQR | 35.5–49.9 | 46.1–55.6 | 29.5–41.7 |
| Liver function test (LFT) | |||
| Normal | 13 | 3 | 9 |
| Abnormal | 14 | 11 | – |
| Hyperbilirubinemia | 6 | 6 (all mild) | – |
| Elevated SGOT | 8 | 6 | – |
| Elevated SGPT | 5 | 6 | – |
| Elevated ALP | 5 | 5 | – |
| Hypoalbuminemia | 4 | 3 | – |
| Abdominal imaging b | |||
| Normal | 15 | 6 | 9 |
| Hepatomegaly with increased echotexture | 3 | 2 | – |
| Hepatomegaly with normal echotexture | 5 | 5 | – |
| Splenomegaly | 1 | – | – |
| Others c | 1 | ||
| Serum manganese level (0.3–1.8 mcg/L) | n = 21 | n = 12 | n = 6 |
| Mean | 58.1 | 47.7 | 85.4 |
| SD | 63.9 | 53.9 | 91.9 |
| Median | 32.5 | 29.4 | 44.9 |
| IQR | 22.2–66.7 | 17.1–42.0 | 27.3–147.7 |
| Thyroid function test (n = 18) | Normal | ||
a
In one child, the abdominal complaint (jaundice) accompanied the neurological complaints. In the second child, abdominal complaints preceded neurological complaints be 2 weeks and in the third by 4 weeks.
b
Ultrasonography abdomen: 22; MRI abdomen = 1; CT abdomen = 1.
c
Splitting of the pelvi‐calyceal system noted.
Abbreviations: IQR, interquartile range; PCV, packed cell volume; SD, standard deviation; SGOT, serum glutamic oxaloacetate transaminase; SGPT, serum glutamic pyruvic transaminase.