Introduction:
We are presenting a case report of a hypothyroid patient who presented with paraparesis, altered sensorium and oliguria. On evaluation he was found to have hematuria with deranged renal parameters and raised CPK levels suggesting rhabdomyolysis and acute kidney injury. Renal biopsy which showed features of myoglobin cast nephropathy with tubulointerstitial disease with positivity for myoglobin cast. He was managed with oral steroids and thyroid hormone supplementation. He had good neurological recovery and normalization of renal parameters. Highlight of this case was Hashimoto’s thyroiditis presenting with spontaneous rhabdomyolysis, leading to acute Kidney Injury with Hoffman’s syndrome. We want to emphasize that high index of suspicion is required in such clinical setting for diagnosis and prompt treatment with thyroid hormone supplementation leads to good clinical outcome
Methods:
A 67-year-old male diagnosed case of primary hypothyroidism for 10 years, with poor drug compliance and off medication for 45 days presented with complaints of insidious onset of weakness of bilateral lower limbs, predominantly proximal associated with pain with progressive worsening leading to bed bound state for last 7 days duration. He also gives decreased urine output, poor oral intake and altered sensorium for 3 days. He presented to our centre and on presentation patient was drowsy with stable hemodynamic parameters. On general examination he had coarse facial features, loss of lateral third of eyebrow, anasarca, dry skin and pallor. His systemic examination revealed decrease power in limbs (in lower and upper limbs mMRC grade-3/5 and 4/5 respectively), delayed and diminished of deep tendon reflexes (upper limbs +2 and lower limbs +1) with bilateral flexor plantar reflex. His initial evaluation revealed anemia with neutrophilic leukocytosis, raised ESR (80mm 1st hour), hyperuricemia (11.3 mg/dl) and he had deranged renal parameters with elevated creatinine and urea (218mg/dl and 13.68mg/dl respectively, baseline creatinine is 1.2mg/dl). Urine examination revealed 3-4 WBC, 33-50 RBC's per high power and proteinuria (700mg/day). Liver function test showed elevated aspirate aminotransferase 788 Iu/L, alanine transaminase 279 IU/L with normal bilirubin level. Fasting cholesterol 229mg/dl and triglyceride 492 mg/dl. Thyroid function test revealed decreased T3(0.2ug/ml), T4(0.49ug/dl) and markedly increased TSH level (302 uIU/ml) and elevated anti TPO antibodies (16.75IU/ml). In view of markedly deranged renal parameters, rhabdomyolysis was considered. On evaluation, Creatine phosphokinase was markedly elevated 28280 à1370 IU/L (normal range 30–200) with elevated lactate dehydrogenase 1768 IU/L (normal range 120-246). Renal ultrasound scan showed normal sized kidney with raised echotexture and maintained CMD. USG neck revealed small sized thyroid gland with raised echotexture, echogenic striation and normal vascularity suggesting of chronic thyroiditis.
In view of markedly deranged renal parameters with features of uremic encephalopathy, he was initiated on hemodialysis, post which patient showed improvement in his sensorium. He was worked up for other caused of Acute Kidney Injury and his he underwent Renal biopsy which showed features of myoglobin cast nephropathy with tubulointerstitial disease (tubular atrophy and interstitial fibrosis with peritubular inflammation, IHC showed positivity for myoglobin cast. With the clinical picture and biopsy findings the diagnosis of Spontaneous rhabdomyolysis precipitated by severe hypothyroidism was confirmed.
Patient was started on thyroid replacement therapy (Thyroxine (150ug/day) along with oral steroid supplementation ( 40 mg/day). His biochemical and hematological parameters improved over next few days with clinical improvement in his weakness and sensorium. On follow-up evaluation his neurological condition resolved and his renal parameters settled to normal.
Results:
Hypothyroidism presents with various clinical features, including muscle involvement such as stiffness, weakness, myalgia, cramps, pseudohypertrophy, and rhabdomyolysis. [3] Rhabdomyolysis, characterized by muscle cell breakdown and the release of muscle contents into the bloodstream, can result from both traumatic and non-traumatic causes. The various non-traumatic causes include heat exhaustion, electrolyte imbalance, seizures, endocrine disorders, infections, and heavy exercise. [4]. Hoffmann's Syndrome is a rare condition associated with long-standing untreated hypothyroidism, predominantly affecting male adults. In children with cretinism, a similar presentation called Kocher-Debré-Sémélaigne syndrome exists although the two may overlap. [5] It is characterized by proximal limb muscle weakness, pseudohypertrophy (increased muscle mass, particularly in the calf muscles), stiffness, and cramps. First described by Johann Hoffmann in 1896, the syndrome also includes typical hypothyroidism symptoms like somnolence, cold intolerance, depressed mood, myxedema, exercise intolerance, myalgia, cramps, stiffness, and myxedema. [6,7] Hypothyroidism can lead to impairments in peripheral nerves, neuromuscular junctions, and muscle fibers. Diagnosis of hypothyroid myopathy (HM) involves elevated thyroid-stimulating hormone (TSH) levels along with increased creatine kinase (CK) or lactate dehydrogenase (LDH) levels for at least two weeks. Hashimoto's thyroiditis is the primary cause of hypothyroid myopathy. The exact pathophysiology is not fully understood but may involve alterations in glycogen metabolism, reduced glycogenolytic activity, and changes in muscle fiber composition, including atrophy of type 2 fibers (fast-twitch) and hypertrophy of type 1 fibers (slow-twitch). Additionally, there may be changes in glycosaminoglycan metabolism, leading to higher urinary excretion. [8,9] Treatment typically involves thyroid hormone replacement therapy (LT4), which can improve symptoms, although recovery may be incomplete. The response to treatment depends on the severity of prior muscle damage and the patient's age. [10] Although considered a rare presentation of Hypothyroidism, Rhabdomyolysis and Hoffman Syndrome is a clinical entity that if diagnosed and treated promptly have good prognosis.
Conclusions:
Hoffmann’s syndrome, a rare myopathy resulting from hypothyroidism, should be considered in the differential diagnosis of myopathic complaints, even in the absence of a prior hypothyroidism diagnosis. Rhabdomyolysis, though infrequent, represents a potentially life-threatening complication of hypothyroidism, often precipitated by poor medication adherence. This case underscores the critical importance of timely recognition and intervention to avert severe complications. Early diagnosis and appropriate treatment are paramount in significantly improving the prognosis for such patients.
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I have no potential conflict of interest to disclose.
I did not use generative AI and AI-assisted technologies in the writing process.